Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
BACKGROUND
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.


METHODS
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 I2 splice (NS), and 5% in I172N (NS). PGWB total score did not differ between patients and controls.


CONCLUSIONS
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.
Frisén
Louise
L
Department of Psychiatry, Danderyd Hospital, SE-18287 Stockholm, Sweden. louise.frisen@ki.se
Nordenström
Anna
A
Falhammar
Henrik
H
Filipsson
Helena
H
Holmdahl
Gundela
G
Janson
Per Olof
PO
Thorén
Marja
M
Hagenfeldt
Kerstin
K
Möller
Anders
A
Nordenskjöld
Agneta
A
D000223:Adaptation, Psychological; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000523:psychology*; D000328:Adult; D005260:Female; D005783:Gender Identity; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D011788:Quality of Life; D019529:Sexuality; D013255:Steroid 21-Hydroxylase / Q000235:genetics
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase