Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due to CYP21A2 Deficiency

Louise Frisén, Anna Nordenström, Henrik Falhammar, Helena Filipsson, Gundela Holmdahl, Per Olof Janson, Marja Thorén, Kerstin Hagenfeldt, Anders Möller and Agneta Nordenskjöld1

Department of Psychiatry (L.F.), Danderyd Hospital, SE-18287 Stockholm, Sweden; Department of Clinical Sciences (L.F.), Karolinska Institutet, Danderyd Hospital, SE-171 77 Stockholm, Sweden; Department of Pediatrics (An.N.), Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Clinical Science, Intervention, and Technology (An.N.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Department of Endocrinology, Metabolism and Diabetes (H.Fa., M.T.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery (H.Fa., M.T.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Department of Endocrinology (H.Fi.), Sahlgrenska University Hospital, Sahlgrenska Academy at University of Gothenburg, S-405 30 Gothenburg, Sweden; Department of Pediatric Surgery (G.H.), Queen Silvia Children Hospital, Sahlgrenska Academy at University of Gothenburg, S-405 30 Gothenburg, Sweden; Department of Obstetrics and Gynecology (P.O.J.), Sahlgrenska University Hospital, Sahlgrenska Academy at University of Gothenburg, S-405 30 Gothenburg, Sweden; Department of Woman and Child Health (K.H., Ag.N.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Nordic School of Public Health (A.M.), SE-402 42 Gothenburg, Sweden; and Department of Pediatric Surgery (Ag.N.), Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden

Address all correspondence and requests for reprints to: Louise Frisén, M.D., Ph.D., Research and Development Section, Department of Psychiatry, Danderyd Hospital, SE-18287 Danderyd, Sweden. E-mail: louise.frisen@ki.se.

Context: Gender-atypical behavior has been described in young girls as well as in women with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency.

Objective: The aim of the study was to assess health-related, psychosexual, and psychosocial parameters and correlate the results to CYP21A2 genotype.

Design and Participants: Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire and a validated quality of life instrument [psychological general well-being (PGWB) formula] to identify psychosexual and psychosocial parameters. The patients were divided into four CYP21A2 genotype groups.

Results: The women with CAH held more male-dominant occupations (30%) compared to controls (13%) (P = 0.04), especially those in the null genotype group (55%) (P = 0.006). They also reported a greater interest in rough sports (74%) compared to controls (50%) (P = 0.007). Eight women with CAH (14%) reported a prime interest in motor vehicles, compared to none of the controls (P = 0.002). Non-heterosexual orientation was reported by 19% of women with CAH (P = 0.005), 50% in the null genotype group (P = 0.0001), 30% in I2splice (NS), and 5% in I172N (NS). PGWB total score did not differ between patients and controls.

Conclusion: We identified increased gender-atypical behavior in women with CAH that could be correlated to the CYP21A2 genotype. This speaks in favor of dose-dependent effects of prenatal androgens on the development of higher brain functions. The impact of the disease on upbringing and interpersonal relationships did not correlate with disease severity, indicating that other factors, such as coping strategies, are important for psychosocial adaptation. This illustrates the need for psychological support to parents and patients.

from http://jcem.endojournals.org/cgi/content/abstract/94/9/3432