Cortisone replacement therapy in endocrine disorders – quality of self-care

Igor A. Harsch MD, ¹ Andrea Schuller MD, ² Eckhart G. Hahn MD ³ and Johannes Hensen MD ⁴

¹ Associate Professor, Department of Medicine 1, Division of Endocrinology and Metabolism, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
² MD, Department of Medicine 1, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
³ Professor of Internal Medicine, Head of Department of Internal Medicine 1, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
⁴ Professor of Internal Medicine, Klinikum Hannover Nordstadt, Hannover, Germany

Correspondence to Dr Igor A. Harsch
Department of Medicine 1
Friedrich-Alexander University
Division of Endocrinology and Metabolism
Ulmenweg 18, 91054 Erlangen
Germany
E-mail: igor.harsch@uk-erlangen.de

Copyright Journal compilation © 2010 Blackwell Publishing Ltd

KEYWORDS

addison • adrenal insufficiency • chronic diseases • corticosteroid dependency • pituitary

ABSTRACT

Objective Some endocrine disorders make cortisone replacement therapy (CRT) mandatory. Patients need to be well informed about the therapy and to be able to adapt the dose in case of stress, trauma or surgery. It is unknown where the patients mainly get their information from and what their preferences in learning about the disease are, as well as what their ideas are on how to improve the knowledge transfer.

Study design We used an anonymized questionnaire to evaluate these objectives as well as the patients' present state of knowledge.

Patients and Methods A total of 338 patients with Addison's disease, hypopituitarism or adrenogenital syndrome (mean age 39.8 ± 21.1 years, mean duration of disease 11.4 ± 10.8 years) took part in the study.

Results Spoken information by doctors is the main source of information for the patients (89%). Apart from counselling by physicians, journals of self-help groups (66%), brochures/guidebooks (60%) and the Internet (45%) are important sources of information. Asked for suggestions for further improvement of knowledge transfer, information available on paper is still the first choice (65%). 51.9% of the questions about CRT were answered correctly. 24% of the patients reported hospitalizations because of Addisonian crisis.

Conclusion Information transfer by doctors is the main source of information for the patients. The low patient numbers make the development of structured education programmes unlikely. Given that only the half of the answers in the 'knowledge' section of the questionnaire were correct, the available media could contribute to the improvement of information transfer.

---

Accepted for publication: 20 November 2008

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1365-2753.2009.01149.x About DOI

 

From http://www3.interscience.wiley.com/journal/123299559/abstract?CRETRY=1&SRETRY=0

Hirsutism: Diagnosis and management

doi:10.1016/j.genm.2010.04.002 | How to Cite or Link Using DOI
Copyright © 2010 Excerpta Medica Inc. All rights reserved.

Lindsey Ann Brodell MS^a and Mary Gail Mercurio MD^{, a,}

^a Department of Dermatology, University of Rochester School of Medicine and Dentistry, Rochester, New York

Accepted 2 March 2010. 

Available online 30 April 2010.

Abstract

Background:Hirsutism is defined as excess hair growth in androgen-dependent areas of the body in women.

Objective: This article provides an updated review of hirsutism, focusing on the etiologies, clinical features, approach to diagnostic evaluation, and treatment options.

Methods: The PubMed database was searched for English-language articles published from 1981 to the present, using the terms hirsutism, polycystic ovarian syndrome, congenital adrenal hyperplasia, hirsutism diagnosis, and hirsutism treatment. Reference lists from review articles on hirsutism during this time period were also examined.

Results: While there are many causes of hirsutism, the majority of patients have a benign process that may be idiopathic. In some circumstances, hirsutism is a sign of functional ovarian hyperandrogenism or congenital adrenal hyperplasia. Even more rarely, it is the presenting sign of an internal malignancy.

Conclusions: Hirsutism clinically presents in women as excessive hair growth in androgen-dependent areas. It is a particularly important diagnosis to make, because it often significantly affects a woman's perception of her femininity and less commonly can be a sign of an underlying malignancy or a cutaneous manifestation of a condition with significant cardiovascular or other morbidity. A variety of treatments exist to help minimize the appearance of unwanted hair.

Key words: hirsutism; hypertrichosis; functional ovarian hyperandrogenism; congenital adrenal hyperplasia; hyperandrogenism

Address correspondence to: Mary Gail Mercurio, MD, Department of Dermatology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 697, Rochester, NY 14642.

From http://www.sciencedirect.com

Mumbai docs cure Nigerian boy of rare disorder

MUMBAI: Davies, a Nigerian, is a happy and relieved mother today. After all, her 10-year-old son can finally play with other boys in school during breaks, participate in football matches — and stop being hungry all the time.

The previous Saturday, Rotimi, who weighs a whopping 90 kilos, underwent a surgery at the Bombay Hospital for a rare condition called Cushing’s Disease, where the body secretes an excess of hormones, which is almost equivalent to popping a couple of steroid pills in a single day.

At this tender age, the condition rendered him a patient of high blood pressure. Besides, his thyroid level was five times that of the normal permissible range, which saw him gain three times the normal weight for his age.

Rotimi’s condition was detected way back in 2007 at a hospital in Nigeria. His parents were informed that there was a one-centimetre tumour in his pituitary gland, which is located at the bottom of the skull. This was the reason behind his unexplained weight gain and the associated health problems. “The tumour was responsible for the excessive secretion of cortisol hormone that made him extremely overweight,” said neurosurgeon Dr Suneel Shah of Bombay Hospital, who along with ENT surgeon Dr Nishit Shah and endocrinologist Dr Alpana Shukla performed the five-hour-long surgery.

Davies tried to treat his condition back home in Nigeria, and then they even flew to London, but the cost proved prohibitive. “This is when we were told by our family doctor that India was a good option in terms of both expertise and cost.”

The Cushing’s Disease, which is believed to affect one in a lakh can be fatal as the metabolic problems keep multiplying. In Rotimi’s case, doctors of the Bombay hospital used an endoscope to reach the tumour through his nostrils applying neuro-navigation techniques. Rotimi flies out this Sunday.

Interestingly, despite his condition, Rotimi continued to be a topper in class, said his proud mother.

From http://timesofindia.indiatimes.com/City/Mumbai/Mumbai-docs-cure-Nigerian-boy-of-rare-disorder/articleshow/6009585.cms

Update on the management of hirsutism

doi: 10.3949/ccjm.77a.08079    Cleveland Clinic Journal of Medicine  June 2010   vol. 77  6  388-398 

   1.  SHANNON HARRISON, MBBS, MMed, FACD*

   1.  NAJWA SOMANI, MD

   1.  WILMA F. BERGFELD, MD?

ADDRESS: Wilma F. Bergfeld, MD, Dermatology and Plastic Surgery Institute, A61, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195; e-mail bergfew@ccf.org.

EDUCATIONAL OBJECTIVE: Readers will recognize signs of androgen excess and will consider current treatment options for hirsutism

 

Abstract

Hirsutism is a source of significant anxiety in women. While polycystic ovary syndrome or other endocrine conditions are responsible for excess androgen in many patients, other patients have normal menses and normal androgen levels (“idiopathic” hirsutism). The goal of the evaluation is to rule out any underlying pathology. The goals of therapy are to treat any underlying condition and to remove the excess hair. Current options for hair removal are discussed. Educating patients so they have reasonable treatment expectations is essential, as significant improvement may take weeks or months, and treatment may need to be repeated on an ongoing basis.

Key points

The finding of polycystic ovaries is not required for the diagnosis of polycystic ovary syndrome, nor does their presence prove the diagnosis. Gonadotropin-dependent functional ovarian hyperandrogenism is believed to cause this syndrome; however, mild adrenocorticotropic-dependent functional adrenal hyperandrogenism also is a feature in many cases.

Even women with mild hirsutism with subtle symptoms and signs of hyperandrogenism can have elevated androgen levels, and thus, they deserve a laboratory evaluation.

Laser treatment does not result in complete, permanent hair reduction, but it is more effective than shaving, waxing, and electrolysis, producing partial hair reduction for up to 6 months.

• ↵* Dr. Harrison received funding in 2008 from the F.C. Florance Bequest, administered through the Australasian College of Dermatologists.

Hirsutism causes significant anxiety and lack of self-esteem in women. Although it is itself a benign condition, it is often the sign of an underlying and possibly serious endocrine condition.

As we will discuss, the diagnosis begins with a detailed history and physical examination, with laboratory testing and imaging as needed to confirm or rule out underlying causes. Management begins with patient education and support and includes hair removal and drug treatment of any underlying metabolic derangement.

PREVALENCE AND IMPACT

Hirsutism is a common disorder of excess growth of terminal hair in an androgen-dependent male distribution in women, including the chin, upper lip, breasts, upper back, and abdomen.¹ It affects 5% to 10% of women of reproductive age.^1,2

Hirsutism should be differentiated from hypertrichosis, which can be hereditary or acquired, and which is defined as increased general hair growth in androgen-independent areas.¹

Excess hair is cosmetically concerning for women and can significantly affect self-esteem. ³ Normal or acceptable hair growth depends on a woman’s ethnicity and her perception of familial, cultural, and societal norms for the quantity and distribution of hair. Mediterranean women generally have a medium amount of body and facial hair, whereas Asian women have a minimal amount.^1,4,5

Hirsutism can be clinically graded according to the Ferriman-Gallwey scale^2,6 and is defined as a Ferriman-Gallwey score of 8 or higher.¹

HOW CIRCULATING ANDROGENS AFFECT HAIR FOLLICLES

In androgen-dependent areas, circulating androgens influence hair follicle characteristics. Androgens increase the size and diameter of the hair fibers in certain androgen-dependent sites, as seen in puberty with the transformation of vellus hairs (small, nonpigmented hairs) into terminal hairs (large, pigmented hairs) in the pubic and axillary regions in women, as well as the beard area in men.^2,7 Interestingly, the same circulating androgens cause miniaturization of the susceptible hair follicles of the central scalp.⁷ The susceptibility of the hair follicle to the effects of the androgens may be genetically determined.^7,8

Hirsutism is a sign of hyperandrogenism and increased action of androgens on hair follicles. In women, about half of circulating testosterone arises from the ovaries and adrenal glands; the rest originates from peripheral conversion of weaker androgens (such as androstenedione produced by the adrenals and ovaries) into testosterone.⁹ Dehydroepiandrosterone sulfate (DHEAS) originates mainly in the adrenal glands.^9,10 Testosterone is converted to the more potent dihydrotestosterone (DHT) by type II 5-alpha reductase in the skin, which can then act on susceptible hair follicles.^7,11 Therefore, hirsutism can be a consequence of endogenous androgen over-production from the ovaries or the adrenal glands (or both), of exposure to an exogenous source of androgen such as a drug, or of heightened hair follicle sensitivity and metabolism of normal circulating androgen levels (target end-organ dysfunction).¹

‘IDIOPATHIC’ HIRSUTISM: A MISLEADING DIAGNOSIS

Many women with hirsutism are found to have polycystic ovary syndrome as the underlying cause, but hirsutism is also commonly labeled as idiopathic when it occurs without an obvious cause, eg, in women with regular menses and normal androgen levels and without features suspicious for other causes of hirsutism. ^1,2,12,13 But while this term is commonly used,^1,12 it may be misleading, especially if the diagnosis of idiopathic hirsutism is based on standard laboratory tests, which do not always detect androgen excess.^2,13 Minor ovarian or adrenal functional hyperandrogenism,¹⁴ increased peripheral activity of 5-alpha reductase in the hair follicle, or abnormalities in the androgen receptor have been implicated in the pathogenesis of so-called idiopathic hirsutism. ^2,15

HIRSUTISM AND POLYCYSTIC OVARY SYNDROME

Polycystic ovary syndrome, a metabolic syndrome, presents clinically with menstrual irregularities such as oligomenorrhea or amenorrhea, infertility, and signs of hyperandrogenism such as hirsutism, acne, or androgenetic alopecia.^16,17 Metabolic disturbances including insulin resistance, impaired glucose tolerance, hyperlipidemia, and obesity (body mass index > 30 kg/m²) also can occur, thus increasing cardiovascular risk.^16–18

The finding of polycystic ovaries is not required to make the diagnosis of polycystic ovary syndrome, and their presence does not prove the diagnosis.^16,19 Gonadotropin-dependent functional ovarian hyperandrogenism is believed to cause this syndrome; however, mild adrenocorticotropic-dependent functional adrenal hyperandrogenism also is a feature in many cases. In rare cases, polycystic ovary syndrome presents with an isolated elevation of DHEAS.^16,20

OTHER CONDITIONS OF EXCESS ANDROGEN

The syndrome of hyperandrogenism, insulin resistance, and acanthosis nigricans, abbreviated as HAIR-AN, is separate from polycystic ovary syndrome; it characterizes a group of inherited syndromes associated with severe metabolic abnormalities of insulin and glucose metabolism and with marked clinical signs of hyperandrogenism.¹²

The syndrome of seborrhea, acne, hirsutism, and acanthosis nigricans, abbreviated as SAHA, while not itself a diagnosis, is a clinical spectrum of dermatologic signs and symptoms also associated with hyperandrogenism. These are signs that may present with the HAIR-AN syndrome or with another cause of excess androgens, such as idiopathic, ovarian, adrenal, or hyperprolactinemic hyperandrogenism.²¹

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FIGURE 1.

A modification of the Ferriman-Gallwey scoring system. A score of 8 or more indicates hirsutism.

Thyroid disease, hyperprolactinemia, acromegaly, Cushing syndrome, exogenous factors such as androgenic drugs, and nonclassical congenital adrenal hyperplasia can also produce hirsutism.¹² In nonclassical congenital adrenal hyperplasia, which is typically caused by a deficiency of 21-hydroxylase, patients present with premature pubarche, hirsutism in the prepubertal years, and menstrual irregularities including primary amenorrhea.^22,23

Important rare causes of hirsutism include benign and malignant androgen-secreting tumors of adrenal or ovarian origin. In such cases, hirsutism can have an acute onset or rapid progression and may be associated with features of virilization, such as deepened voice, increased muscle mass, androgenetic alopecia, clitoromegaly, and increased libido.¹²

A THOROUGH HISTORY IS CRITICAL TO DIAGNOSIS

A thorough medical history can provide important diagnostic clues in women with hirsutism. The clinician should elicit details about the onset and progression of the hair growth,^12,15 previous treatments, and any cutaneous signs of hyperandrogenism, such as acne, seborrhea, acanthosis nigricans, or patterned hair loss.

Also important are the menstrual history and a history of infertility. Primary amenorrhea is defined as failure to menstruate by 16 years of age if secondary sexual characteristics have developed, or by 14 years of age if no secondary sexual characteristics have developed, and it can indicate nonclassical congenital adrenal hyperplasia.

The clinician should also try to determine if the patient has a history of galactorrhea or symptoms of virilization (eg, deepened voice, clitoromegaly, increased muscle mass); a family history of hirsutism, polycystic ovary syndrome, HAIR-AN syndrome, metabolic conditions such as type 2 diabetes mellitus, or cardiovascular disease^12,15; or a history of symptoms of any condition known to produce hirsutism, such as Cushing disease, acromegaly, or a thyroid disorder. Also important is a drug history to determine if the patient has taken drugs such as androgens, anabolic steroids, or valproic acid (Depakote).²⁰

THE PHYSICAL EXAMINATION

The physical examination involves use of the Ferriman-Gallwey hirsutism scoring system or a modified Ferriman-Gallwey scoring system (FIGURE 1), which helps categorize the severity and distribution of excess hair growth. A Ferriman-Gallwey score of 8 to 15 (out of a possible 36) indicates moderate hirsutism, whereas a score above 15 indicates severe hirsutism.^2,15

Another proposed predictor of hirsutism is that terminal hair on the chin or the lower abdomen (Ferriman-Gallwey score ≥ 2) is nearly 100% sensitive and 27% specific at predicting total-body hirsutism.²⁴

As part of the physical examination, the clinician should also look for other cutaneous signs of hyperandrogenism, such as acne, androgenetic alopecia, and seborrhea. Acanthosis nigricans is a sign of insulin resistance. Height and weight should be measured and the body mass index calculated. Blood pressure should be recorded, as high blood pressure may be seen in Cushing syndrome and is an important cardiovascular risk factor. Signs of virilization should be identified. Indicators of Cushing disease such as striae, moon facies, fat redistribution, fragile skin, and proximal myopathy should be noted as well as signs of thyroid disease, such as textural skin changes, goiter, and hair loss. Expressible or spontaneous galactorrhea suggests hyperprolactinemia. Acromegaly is associated with coarse facies and enlarged hands and feet. Many of the endocrinopathies can be caused by a pituitary adenoma, which can manifest as a visual field defect, so visual fields should be examined.²⁵ The examination should also exclude any palpable ovarian or adrenal mass.¹²

WHEN IS ADDITIONAL TESTING NEEDED?

Laboratory and radiologic testing in patients with hirsutism may be needed to confirm the diagnosis of a suspected underlying condition or to exclude serious underlying pathology (TABLE 1).^{1,12,15–18,20,22,23,25–28}

The current Endocrine Society guidelines²⁰ recommend obtaining an early-morning testosterone blood level in the following patients:

• Women with moderate or severe hirsutism

• Women with hirsutism of any degree with sudden onset or rapid progression, or accompanied by signs or symptoms suggesting malignancy or polycystic ovary syndrome: eg, menstrual irregularity, infertility, central obesity, clitoromegaly, or acanthosis nigricans.^15,20

Testing androgen levels in mild, isolated hirsutism has not been proven to be useful or to alter management.²⁰

Free testosterone level

An early-morning total or free testosterone level is the initial test in the laboratory evaluation of hirsutism.^12,15 Additional specialized laboratory testing may be needed to determine the free testosterone level,¹⁵ as the free testosterone test is not available at all laboratories. A normal total testosterone level does not exclude hyperandrogenism but can suggest the diagnosis of idiopathic hirsutism.¹⁵

Further testing is needed if the total testosterone level is normal or only slightly elevated, or if there is a strong clinical suspicion of an underlying condition such as endocrinopathy or tumor. It is also useful in patients whose hirsutism responds poorly to medical treatments¹⁵ (see discussion below).

If the total testosterone level is elevated, if the hirsutism is moderate to severe, if there are associated symptoms, or if hirsutism is acute or progressive, a further endocrinologic workup is needed,¹⁵ possibly including measurement of free testosterone, sex hormone-binding globulin, DHEAS, and androstenedione.¹⁵ Free testosterone, unbound to sex hormone-binding globulin, is the biologically active fraction, with the levels of binding globulin increased by drugs such as oral contraceptives¹⁵ and decreased by high insulin levels in insulin resistance.²⁵

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TABLE 1

Tests suggested in the workup of hirsutism

Test in patients with mild hirsutism?

Although the guidelines suggest that no additional workup is necessary for women with mild hirsutism, we evaluate all patients with hirsutism and those with the SAHA clinical spectrum by measuring free and total testosterone and DHEAS. In our experience, even women with mild hirsutism with subtle symptoms and signs of hyperandrogenism and mild hirsutism often have elevated androgen levels.

Test in women with idiopathic hirsutism?

In women with idiopathic hirsutism, minor forms of functional ovarian and adrenal hyperandrogenism are believed to play a role and are thought to be undetectable with conventional testing.²⁵ The gonadotropin-releasing hormone (GnRH) analogue stimulation test may uncover occult hyperandrogenism in this setting, but it is used as a research tool and does not currently have application in routine clinical practice.¹⁴

It is important to remember that some women with apparent idiopathic hirsutism and a history of regular menstrual cycles are actually oligo-ovulatory or anovulatory. In these instances, another diagnosis should be considered,¹³ and referral to an endocrinologist for further evaluation of ovulatory function is recommended.¹³

CURRENT USE OF DIAGNOSTIC IMAGING

When malignancy is suspected

A testosterone level above 200 ng/dL suggests an ovarian tumor, and a DHEAS level above 700 μg/dL suggests an adrenal tumor.²⁶ However, not all tumors present with such high androgen levels, and sudden onset of hirsutism, rapid progression of hirsutism, or signs of virilization suggest a tumor.¹⁵ In such cases, transvaginal ultrasonography, computed tomography, or magnetic resonance imaging (MRI) of the abdomen can exclude an ovarian or adrenal tumor.

When polycystic ovary syndrome is suspected

The diagnosis of polycystic ovary syndrome is confirmed by two out of three criteria:

• Oligo-ovulation or anovulation

• Clinical or laboratory signs of hyperandrogenism

• Ultrasonographic evidence of polycystic ovaries, with exclusion of other causes of hyperandrogenism.

ADDITIONAL LABORATORY TESTING

Tests for polycystic ovary syndrome

Assessment of polycystic ovary syndrome involves transvaginal ultrasonography, but ultrasonographic evidence of a polycystic ovary is not necessary for the diagnosis.¹⁶ A fasting lipid profile and fasting serum glucose are recommended, and if the fasting serum glucose is normal, an oral glucose tolerance test is recommended. ¹⁷

Some have reported measuring the ratio of luteinizing hormone to follicle-stimulating hormone in the workup of polycystic ovary syndrome, and a ratio greater than 2 has been considered indicative but not diagnostic.^16,25 The individual levels of luteinizing hormone, follicle-stimulating hormone, and estradiol are more important in the evaluation of infertility and ovulatory dysfunction. In patients with elevations of these hormones or with these symptoms, referral for infertility screening with an endocrinologist or gynecologist is recommended. ²⁵

Additional testing and referral for Cushing syndrome, other conditions

Cushing syndrome can be tested for with a 24-hour urine cortisol, overnight low-dose dexamethasone suppression test, and late-night salivary cortisol.^27,28 Referral to an endocrinologist for further testing can differentiate between corticotropin-dependent or corticotropin-independent Cushing syndrome.²⁵ Cushing syndrome is often associated with hyperandrogenism, particularly in those cases caused by adrenal tumors.²⁹

The prolactin level and the level of somatomedin C (insulin-like growth factor 1) can be used to rule out hyperprolactinemia and acromegaly, respectively.¹² If Cushing syndrome, hyperprolactinemia, or acromegaly is diagnosed by endocrinologic testing, pituitary MRI should be performed.^12,25

Referral to specialist centers with experience with these conditions is essential. Nonclassical congenital adrenal hyperplasia can be screened for by a serum 17-hydroxyprogesterone level measured in the follicular phase.¹² Measurement of thyroid-stimulating hormone, free thyroxine, and thyroid peroxidase antibodies screens for thyroid disease.¹² Hirsutism has been reported with the commencement of L-thyroxine therapy.³⁰

THE PRINCIPLES OF TREATMENT

Patient education regarding the cause of hirsutism and reasonable treatment expectations and emotional support are important in the management of hirsutism. Also important is regular follow-up to measure and document the response to treatment; this can include repeating Ferriman-Gallwey scoring, taking photographs of affected areas, and retesting androgen levels after 3 to 6 months.¹²

Treatment must be continued for an ongoing effect, and most pharmacologic treatments can take up to 3 to 6 months to produce significant improvement.¹

When an underlying condition is diagnosed, treatment of the condition is essential. Androgen-secreting tumors require surgical management.¹² Cushing disease, hyperprolactinemia, and acromegaly should be clinically apparent from examination and testing, and appropriate referral and standard management should be instigated. Exogenous sources of androgen such as androgenic progestins or anabolic steroids should be discontinued. Lifestyle management is important, and weight loss in obese patients with polycystic ovary syndrome can improve hirsutism as well as mitigate cardiovascular risk factors.³¹

In classic congenital adrenal hyperplasia, glucocorticoid therapy manages both ovulation induction and hirsutism.²⁰ However, in nonclassical congenital adrenal hyperplasia, glucocorticoid therapy supports ovulation induction, but hirsutism usually requires both systemic antiandrogen and hair removal.²⁰

CURRENT OPTIONS FOR HAIR REMOVAL

The mainstay of treatment of hirsutism is removing the excess hair. Options (TABLE 2) include inexpensive, home-based, self-care methods such as plucking, shaving, waxing, using depilatory creams, and bleaching, and more expensive clinic-based treatments such as clinic-based waxing, electrolysis, and laser hair removal. These methods can also be combined with drug therapy.¹

The choice of method depends on patient preference, adverse effects, the degree of hirsutism, the level of distress, previous treatments, and cost.^1,15,32

Self-care methods

Self-care methods offer only temporary reduction of excess hairs.

Plucking removes the entire hair, including the root, but it is painful and time-consuming, and it is only practical for areas where few hairs exist, such as on the face.¹

Shaving is an easy, inexpensive, and painless choice for hair removal. Although a common belief is that shaving causes faster or thicker hair regrowth, shaving affects neither the diameter nor the rate of growth of the hair.³² Given its masculine association, shaving is not acceptable to most women except perhaps for use on the legs and axillae.^1,32 Shaving can cause irritation, folliculitis, pseudofolliculitis, and infection.¹

Waxing removes the entire hair. While it is more expensive than plucking, regrowth is slower, occurring over weeks. It is painful and can cause thermal burns, irritation, folliculitis, scarring, and postinflammatory dyspigmentation.¹

Chemical depilatories, usually thioglycollic acid preparations, are inexpensive, painless, and easy to use. However, the resulting hair reduction is of short duration because the hair shafts are only removed at the level of the skin surface.¹ They can also cause irritant dermatitis. ¹

Bleaching with hydrogen peroxide is inexpensive and can camouflage dark facial hair, but it can also cause skin discoloration and irritation. ¹

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TABLE 2

Hair removal methods and their potential side effects

Clinic-based methods

Electrolysis often results in a permanent reduction in hair growth.^1,32 A fine needle is placed into the hair follicle and an electrical current is applied. Each follicle is treated individually. ^1,32 Best results are seen on darker hairs in patients with lighter skin, but it can be used on all skin types and hair colors.^1,32

Electrolysis is operator-dependent, and there are US Food and Drug Administration (FDA) regulations regarding electrolysis techniques. It requires multiple treatments, and it is painful and can cause erythema, folliculitis, pseudofolliculitis, infection, scarring, and postinflammatory dyspigmentation.^1,32 Some reports suggest that prior waxing and plucking of hairs damages the hair by twisting the hair shaft, making electrolysis more difficult.³²

Laser treatment uses light of certain wavelengths to damage the hair follicles. While laser hair removal does not result in complete or persistent hair removal, it is more effective than shaving, waxing, and electrolysis, producing partial hair reduction for up to 6 months; the effect is enhanced with multiple treatments.^33,34 The number of treatments required depends on the laser type and on the nature of the patient’s hair follicles.³⁵

Laser systems for hair removal are of various wavelengths and also include intense pulsed light systems. The choice of system depends on the patient’s skin type and hair color. Women with fair skin and dark hair are ideal candidates; longer-wavelength lasers are preferred for darker or tanned skin types.

Adverse effects of laser hair removal include pain, erythema, burns, dyspigmentation, and scarring. Laser cooling devices can prevent or minimize some of these effects. Laser treatment has also been known to cause a paradoxical increase in hair growth.^1,33,34

DRUG THERAPIES FOR HIRSUTISM

Another option for hair removal in patients with hirsutism is drug therapy (TABLE 3).^{1,12,15,20,31,32,36–42} Several meta-analyses have studied drug treatments for hirsutism and treatment guidelines have been published. ^20,36–38 However, the studies are limited by the heterogeneity of patients with hirsutism, small sample sizes, limited methodology, and failure to distinguish between the types of hirsutism.

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TABLE 3

Possible side effects of drug treatments for hirsutism

The drugs most commonly used for hirsutism are oral contraceptives (off-label use) and antiandrogenic drugs (off-label use). Topical eflornithine cream (Vaniqa) is FDA-approved for hirsutism but is less commonly used. Insulin sensitizers, GnRH analogues, and other drugs are occasionally used (off-label) to treat hirsutism.

Topical eflornithine cream

Topical eflornithine cream treats facial hirsutism by slowing the rate of hair growth; it does this by irreversibly inhibiting ornithine decarboxylase, an enzyme essential for hair growth.^39,40 Studies showed that twice-daily application reduced unwanted facial hair in women after 24 weeks of treatment.^39,40 Treatment must be continuous, since hair growth rapidly returns to the pretreatment rate by 8 weeks after discontinuing eflornithine.^39,40 White women have been shown to respond better than black women.³⁹ Adverse effects include a mild burning sensation, acne, pseudofolliculitis barbae, irritation, and allergic contact dermatitis.^39,40 Improved outcomes have been suggested when eflornithine cream is combined with laser hair removal.⁴¹

Oral contraceptives

Oral contraceptives are commonly used off-label for the management of hirsutism.²⁰ Oral contraceptives suppress the secretion of luteinizing hormone and, hence, the synthesis of ovarian androgen, thereby increasing levels of sex hormone-binding globulin and decreasing free plasma testosterone.^1,20 Adrenal androgen production is also slightly reduced.²⁰

Oral contraceptives usually combine a synthetic estrogen and a progestin. Certain progestins are more androgenic and should be avoided.¹

For treating hirsutism, oral contraceptives should be used that contain low-androgenic progestins such as cyproterone acetate (not available in the United States), drosperinone (eg, in Yasmin), norgestimate (eg, in Ortho Tri-Cyclen), or desogestrel (eg, in Mircette).^1,20

Side effects of oral contraceptives include breast tenderness, gastrointestinal upset, headache, loss of libido, hypertension, and the potential risk of venous thromboembolism.^1,15,32,36

Antiandrogenic drugs

Several antiandrogenic drugs are used off-label to treat hirsutism.

Spironolactone (Aldactone), a competitive inhibitor of the androgen receptor and 5-alpha reductase activity,²⁰ can be effective in the treatment of hirsutism. Monotherapy with spironolactone, without an oral contraceptive or other reliable form of contraception, is not recommended because of the teratogenic potential of all antiandrogens to feminize a developing male fetus.²⁰ Thus, reliable contraception should be used in females of childbearing age when starting antiandrogen therapy.

The dosage of spironolactone for hirsutism is usually 100 mg to 200 mg daily.^1,20 Hyperkalemia, polyuria, postural hypotension, irregular menses, and liver abnormalities are among the possible adverse effects (TABLE 3). Spironolactone was found to be tumorigenic in animal studies, although this has unknown relevance in humans.³⁶

Cyproterone, an antiandrogen not available in the United States,⁴² competitively inhibits the androgen receptor and 5-alpha-reductase activity.^1,20,36 It can be used for only the first 10 days of the menstrual cycle (50-mg or 100-mg dose) with an oral contraceptive pill, or in a low dose in a combined oral contraceptive pill (Diane-35 in Canada and the United Kingdom).¹

Side effects are similar to those of oral contraceptives and include fatigue, mood change, risk of venous thromboembolism, and decreased libido.^1,15,36 Importantly, in woman of childbearing age, there is the potential risk of feminization of a male fetus, so reliable contraception must be used.^15,36

Flutamide, an investigational antiandrogen, has shown promise in the treatment of hirsutism.²⁰ Flutamide is a nonsteroidal competitive inhibitor of androgen receptor binding. It carries a significant risk of hepatotoxicity. ^1,15

Finasteride (Propecia) 1 mg is only occasionally used in the treatment of hirsutism (off-label usage). It inhibits type II 5-alphareductase to suppress dihydrotestosterone levels. ³² It carries a risk of gastrointestinal disturbance, decreased libido, hepatotoxicity, and feminization of a male fetus (pregnancy category X), so reliable contraception is required in all females of childbearing age, as with all antiandrogens¹ (TABLE 3).

Dutasteride (Avodart), a type I and II 5-alpha-reductase inhibitor, has not been studied for the treatment of hirsutism (pregnancy category X).

Insulin sensitizers

Metformin (Glucophage) and other insulin sensitizers are less effective than antiandrogens at reducing hirsutism.^20,38 However, metformin is effective at inducing ovulation in patients with polycystic ovary syndrome.³⁸ Gastrointestinal upset is a common side effect; lactic acidosis is a serious but rare adverse effect.¹

Gonadotropin-releasing hormone analogues

GnRH analogues are an option only if oral contraceptives and antiandrogen drugs are unsuccessful in patients with severe hyperandrogenism. ²⁰ They suppress secretion of luteinizing hormone and the synthesis of ovarian androgen.^1,20 These drugs are given as monthly intramuscular injections, usually with some form of estrogen-progestin replacement, since GnRH analogues cause estrogen levels to fall to menopausal levels.¹

Side effects include signs and symptoms of menopause including hot flushes, atrophic vaginitis, and osteoporosis.^1,15 These drugs completely inhibit ovulation, and some endocrinologists and gynecologists do not suggest further contraception in women of childbearing years for this reason. However, GnRH analogues are not approved as a contraceptive and are pregnancy category X.

Other drugs

Other drugs with antiandrogen activity include cimetidine and ketoconazole.¹² Cimetidine (Tagamet) is not effective for the treatment of hirsutism, and ketoconazole (Nizoral) is associated with significant risk for adrenocortical suppression¹² and hepatotoxicity in addition to multiple drug interactions, given its effect on the hepatic P450 enzyme system.

Acknowledgments

Many thanks to Rebecca Tung, MD, dermatologic surgeon, Cleveland Clinic, for her advice on lasers.

• Copyright© 2010 The Cleveland Clinic Foundation

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Cushing’s Disease: Fighting back to fitness

Cushing's Disease

Sian Fletcher was overweight, unfit and depressed after undergoing brain surgery, but was helped to recover by a gym instructor. Now she has qualified to become a fitness instructor herself. Suzanne Savill reports

Tears were rolling down Sian Fletcher's face as she stood on the treadmill at the Fitness First gym on Bristol Harbourside.

"I just broke down and started crying because I felt so hopeless," she recalls.

"I'd only managed to do about 15 minutes. I was overweight, exhausted and depressed.

"At that point it would have been very easy for me to have given up going to the gym altogether."

About a month earlier, Sian had undergone brain surgery for a tumour on her pituitary gland that had caused her years of mysterious health problems.

But as she staggered off the treadmill, it seemed that her health problems were going to continue despite the operation. However, her personal trainer Phil would not let her give up.

"He told me that I was doing a fantastic job by even getting on the treadmill after the operation I'd just had," says Sian, 23, who lives in Whitchurch with her husband Andy.

"Phil was very professional and managed to encourage me to keep going."

At that time, Sian – who is just five feet tall – weighed about 10 stones. Today, she is seven stones and she is also a qualified fitness instructor, and studying to become a personal trainer.

"I trained as a chef, and I'd worked at some of the best restaurants in Bristol, such as Quartier Vert, Bordeaux Quay and Taste in St Nicholas Market," she says.

"But I wanted to give something back to people like me, just as Phil did for me. He made me see that I could get through it, and that it just took time."

Sian first began feeling ill in 2007, when she suddenly developed stretch marks on her abdomen, legs, and arms.

She says: "I was getting a little 'round' in the middle and I was just not feeling well, but when I went to the doctor I was told that some people do develop stretch marks for no reason.

"Later that year I went back to the doctor, complaining that I was very thirsty in the morning and also kept having headaches that would turn into painful migraines on the right side of my head.

"They gave me some blood tests to rule out diabetes and some other routine tests. When they came back they said I had low potassium levels and my B12 vitamins were low. They recommended eating a banana a day. I accepted this and bought a bunch of bananas!"

But Sian's health continued to deteriorate. She was still putting on weight, and noticeable hair had begun to appear on her upper lip and neck.

"I felt horrible and totally unfeminine, although my boyfriend Andy – who is now my husband – was lovely and just accepted me as I was," she says.

"I was quite big by then, and a friend very kindly told me that she had a free pass to the Fitness First gym at Bristol Harbourside and asked me if I'd like to use it.

"I wasn't too sure, as I was never one to play sport or do exercise in school. In fact I'd be the one forging notes or faking illness injury so I didn't have to take part!

"But when I went and loved it, I thought it would solve all my health problems, and I did manage to lose around half a stone, but then that was it.

"After several months of not losing any more weight I went back to the doctor. He said that I just had to be persistent with my diet and exercise."

The first signs that something was seriously wrong came after Christmas 2008, when Sian visited her GP for a routine check-up for her contraceptive pill. Her blood pressure was so high that her doctor switched her to an oestrogen-only pill.

Just over a week later, Sian had a motorcycle accident as she made her way home from her job at Chef Direct on the A38 Bridgwater Road.

Her Kawasaki 500 GPZ motorcycle collided with the back of a car, and she hit her head which resulted in a large gash on her nose.

Sian says: "My face was covered in blood. An ambulance arrived and I was put on a stretcher while they checked my pulse and blood pressure.

"I told the paramedic that my doctor had changed my pill about a week ago so my blood pressure would still be high. He said it should have dropped down by now, but it hadn't and I should go back as soon as possible."

Sian's doctor sent her to see an endocrine specialist in case she had a problem with her kidneys, and she also had to have an MRI scan.

By now her blood pressure was very high, at 163 over 98, her skin was bruising easily from the blood tests and her face was bright red and puffy.

Meanwhile, she had begun exercising with a personal trainer at Fitness First Harbourside, called Philip Shoyer.

"Little did I know that he would be so much help to me over the coming 18 months," she says. The tests and MRI scan revealed that Sian had a rare condition called Cushing's Disease, caused by a small tumour the size of a pea on the right side of her pituitary gland.

Sian says: "I was booked to have key hole surgery to remove the tumour in August 2008, but I was terrified of what was going to happen to me. I'd been told I may lose some of my vision and my fertility, and that I might not be the same as I was before."

"Phil pointed out that if I didn't have the surgery I could only get worse. I listened to his advice and decided to have the operation."

When Sian woke up at Frenchay Hospital after the operation she felt worse instead of better.

"I felt drained and tired. I was dizzy, I had a headache and I just wanted to sleep," she says.

Even after five days in hospital, during which time she had blood tests which showed she was cured of Cushing's Disease and no longer needed to take hydrocortisone, she was still feeling ill.

"I wasn't allowed to go back to work for six weeks, I couldn't lean forward, swim, or sneeze. I hated it," she says.

"Four weeks after the operation I had my first personal training session with Phil following the surgery. I lasted around 20 minutes before I broke down in tears because I couldn't do any more.

"He told me it was fine, and reminded me that I'd had major surgery only a few weeks ago, and we would just have to take it slowly until I felt better."

Instead of feeling better, however, Sian was diagnosed with depression just before Christmas 2009, and put on anti-depressants.

She recalls: "I felt ashamed. I didn't want to be depressed. I wanted to be normal – the person I was before. I wanted to go kickboxing and train five days a week like I used to. But I could barely stay awake on the bus after six hours' work.

"I was very unhappy and was beginning to wish I'd never had the surgery."

However, the anti- depressants began to work, and within weeks, Sian began to feel much better. She managed to lose two and a half stone by February and her body fat went from 33 per cent to 18 per cent, while her blood pressure became normal and she started to feel better.

By April she was back to training with Phil for an hour at the gym five days a week, and in September she took part in her first kickboxing tournament and won gold. She has now reached third kuy belt standard.

Fitness First holds an award ceremony for members, and earlier this year Sian was one of 12 members from around the UK selected to attend the final in London.

"I didn't win the award for Fitness First but was so proud to be there. I was finally realising that what I had gone through was a big deal and I had actually managed to push through it," she says.

Sian is now working towards her black belt in kickboxing and training to become a personal trainer, so that she can help other people in the way Phil helped her.

"I know I'll always be a pituitary patient and it will always be with me. But I believe that with people like Phil who give their time and patience to people like me, we can get better and feel 'normal'," she says.

"Without him and all the staff at Fitness First, plus my wonderfully supportive husband Andy, I would never be where I am today."

Cushing's syndrome develops when the body makes too much of the hormone cortisol, which helps to regulate blood pressure and blood sugar levels, and helps the body cope with stress.

The commonest cause of spontaneous Cushing's Disease is a small, benign tumour of the pituitary gland at the base of the brain.

Treatment usually requires an operation in which a surgeon makes a small cut in front of the upper teeth behind the upper lip, or inside the nose.

After the operation, patients need to take a replacement cortisol called hydrocortisone in a tablet form, as the body's normal production of cortisol will have been affected by Cushing's.

Sian no longer needs to take hydrocortisone for daily function, although she will need to take it again if she becomes stressed or ill.

For further information about Cushing's, contact The Pituitary Foundation, which is based in Bristol and can be contacted on 0845 450 0375. The foundation's website is www.pituitary.org.uk.

From http://www.thisisbristol.co.uk/lifestyle/Fighting-fitness/article-2228324-detail/article.html

Endonasal transsphenoidal approach to pituitary surgery: experience of 55 cases

Bangladesh Journal of Otorhinolaryngology, Vol 15, No 2 (2009)

Forhad Hossain Chowdhury, Md Raziul Haque, Md Shafiqul Islam, Mani Lal Aich, Khandkar Ali Kawsar, Momtazul Haque, Mainul Haque Sarkar

Abstract

Transsphenoidal approach to sella is not a new approach. In the last 100 years it has gone numerous changing refinements from using headlight to microscope and more recently the sensitive endoscope. In this prospective study, all patients with pituitary tumor who underwent endonasal transsphenoidal pituitary surgery during the period of January 2006 to July 2009 in the department of neurosurgery, Dhaka Medical College Hospital and Islami Bank Central Hospital, Dhaka, Bangladesh were included. Among the 55 patients 36 cases were operated by combined endoscopic and microscopic techniques and 19 cases were operated by endoscope only. Total 73 procedures were done in 55 patients. Age range was 17 years to 70 years. Follow up period was 03 months to 42 months (mean 14.2 months) .Male: female was almost 1:1. Clinical features were pituitary apoplexy, pituitary apoplexy with 3rd/+6th cranial nerve palsy, headache, amenorrhea, loss of libido, galactorrhoea, gynecomastia, weight gain and psychosis. Visual impairment was in 35 cases. Functioning adenoma was 21 and non functioning adenoma was 34 cases. Among the functioning adenoma acromegaly was seen in 12 cases, gigantism in 01 case, prolactinoma in 05 cases, Cushing's disease 03 cases. Purely sellar tumor was 15, sellar & suprasellar 35 and sellar & parasellar 11 cases.

Microscopic plus endoscopic techniques used in 54 procedures. Purely endoscopic procedures were 19. Complete removal of tumor in single stage was done in 33 cases. Complete removal with more than one stage surgery in 13 cases. In our initial cases of the series, we exposed the sella endonasally with endoscope then we used microscope for the rest of the surgery. In the later part of the series we gained experience and confidence for removal of pituitary tumor with an endoscope completely. The rate of diabetes insipidus occurred in 11(20%) cases and all are transient. Postoperative CSF leak was noted in 10(18%) cases. Patient with ocular palsy improved post operatively within 6 weeks. Among non functioning adenoma that were removed completely (30 cases) recurrence occurred in three cases. Eleven patients were stable in vision as preoperative. Other showed visual improvement to variable extents.

Key words: Pituitary surgery; Endonasal; Transsphenoidal; Microsurgery; Endoscopic surgery.

DOI: 10.3329/bjo.v15i2.5056

Bangladesh J Otorhinolaryngol 2009; 15(2): 45-49

Full Text: PDF

Bangladesh Journal of Otorhinolaryngology ISSN 1728-8835

BanglaJOL is supported by INASP

From http://www.banglajol.info/index.php/BJO/article/viewArticle/5056

NIH: Undiagnosed Diseases Program

Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:

• To provide answers to patients with mysterious conditions that have long eluded diagnosis
• To advance medical knowledge about rare and common diseases

The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes will contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who may participate in the program's clinical research.

Any longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program’s medical team.

For more information please call (866) 444-8806

Please do not send Undiagnosed Diseases Program-related email or submit medical records to the NIH Office of Rare Diseases. All communication should be handled through the Undiagnosed Diseases Program staff at the NIH Clinical Center.

Program Information

Frequently Asked Questions (FAQ)

Information for patients (PDF - 90 KB)

Information for health-care providers (PDF - 93 KB)

News

Press Release (PDF - 51KB)

Place for Hope

Audio recording media telebriefing (MP3 - 10,799 KB)

Audio recording patient advocacy teleconference (MP3 - 18,905 KB)

Transcript: Undiagnosed Diseases Program Media Tele-Briefing (PDF - 79 KB)

NY Times Magazine describes the experiences of a UDP patient

Patient Support

In Need of Diagnosis, Inc. (INoD)

Syndromes Without A Name- USA (SWAN-USA)

From http://rarediseases.info.nih.gov/Resources.aspx?PageID=31

NIH recognizes undiagnosed diseases

By Ricki Lewis
If TV’s Dr. House, diagnostician extraordinaire, is ever truly stumped, he can refer his patient to the National Institutes of Health’s new "Undiagnosed Diseases Program."

Health care providers will refer patients whose symptoms do not fit any known pattern, and the agency will invite some of them for a work-up at the NIH’s Clinical Center in Bethesda. After examinations by dozens of medical specialists, patients might be enrolled in one of the existing 1,500 ongoing clinical trials or perhaps inspire a new investigation. In addition to attempting to diagnose the undiagnosable, the program will also identify subtypes of more common illnesses, leading to a “catalog of descriptions of conditions – a phenotype atlas that will provide new information for textbook diagnoses,” said William A. Gahl, MD, PhD clinical director at the National Human Genome Research Institute, who was one of a panel of speakers at a telephone news conference today announcing the program.

Amanda Young, a 26-year-old from Georgia, represented the type of patient who might take advantage of the new program. “I had horrible infections, and no one knew how to stop them. All they knew was that I had a low white blood cell count. By age 3 1/2 I’d had meningitis 3 times, seizures, and an abscess on my abdomen the size of a cantaloupe.” At age 8, a scratch on a leg turned into a raging infection, and gas gangrene led to amputation up to the hip. At age 9, she went to the NIH, and on May 13, 2003, her disease finally received a name: IRAK4 deficiency. She inherited a mutation from each parent, profoundly impairing her innate immunity.

The Undiagnosed Diseases Program anticipates 1-2 referrals a week for the first year, and hopefully many of them will hear “magic words” like Amanda Young did – a name for their diseases. More importantly will be the explanations that the names symbolize. For example, IRAK4 is an enzyme that participates in the Toll-like receptor pathway – discovered in the fruit fly Drosophila melanogaster.

As a former Drosophila geneticist, I was thrilled at the reference during the NIH phone conference to my old six-legged friends. I worked with homeotic mutants – flies that had legs in place of their antennae and mouthparts (that's a picture of one on the right). One reason that I left science for journalism was my oh-so-wrong feeling that flies with mixed up body parts mattered only to other flies. Months after I got my PhD, others in my lab discovered the homeobox – the genetic instructions for where organs end up in the embryo. Homeoboxes would eventually be found everywhere in the living world, from chickens to trees. And over the years, the mutations I’d worked with turned up behind a host of human diseases, from cancers, to birth defects, to curiously fused toes.

NIH’s Undiagnosed Diseases Program is a boon to desperately sick people, a fitting celebration of the 25 year anniversary of the Orphan Drug Act, and at the same time a vindication of basic research.

Lewis, R. Confessions of an ex-fly pusher. The Scientist 14(9):10, 2000.

Ricki Lewis is the author of the novel Stem Cell Symphony and the textbook Human Genetics: Concepts and Applications, now in its 8th edition. She is a fellow of the Alden March Bioethics Institute.

From http://blog.bioethics.net/2008/05/nih-recognizes-undiagnosed-diseases/