Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
BACKGROUND
Females with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency are exposed to androgens during fetal development, resulting in virilization of the external genitalia. Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation.


OBJECTIVE
Our objective was to investigate the correlation between the surgical results, the self-perceived severity of the disease, and satisfaction with sexual life and relate the results to the CYP21A2 genotype.


METHODS
Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire, and a composite score for sexual function was constructed. The surgical outcome, including genital appearance and clitoral sensitivity, was evaluated by clinical examination. The patients were divided into four CYP21A2 genotype groups.


RESULTS
The sexual function score, but not for genital appearance, was higher in the patients satisfied with their sexual life. This was also true of the patients who were satisfied with the surgical result. There were discrepancies between the patients' perception of the impact of the condition on their sexual life and what health professionals would assume from clinical examination. The patients in the null genotype group scored lower on sexual function and satisfaction with their sexual life and had more surgical complications, also compared with the slightly less severe I2-splice genotype group.


CONCLUSIONS
Our data show that the null genotype group was considerably more affected by the condition than the other groups and should be regarded as a subgroup, both psychologically and from a surgical perspective. Genotyping adds clinically valuable information.
Nordenström
Anna
A
Department of Pediatrics, Astrid Lindgren Children's Hospital, Stockholm, Sweden. Anna.Nordenstrom@ki.se
Frisén
Louise
L
Falhammar
Henrik
H
Filipsson
Helena
H
Holmdahl
Gundela
G
Janson
Per Olof
PO
Thorén
Marja
M
Hagenfeldt
Kerstin
K
Nordenskjöld
Agneta
A
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000523:psychology* / Q000601:surgery; D000328:Adult; D001828:Body Image; D002987:Clitoris / Q000601:surgery; D005260:Female; D005838:Genotype; D006306:Health Surveys; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D017060:Patient Satisfaction; D011788:Quality of Life / Q000523:psychology*; D012720:Severity of Illness Index; D012725:Sexual Behavior / Q000523:psychology*; D018709:Statistics, Nonparametric; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D011795:Surveys and Questionnaires; D013548:Sweden; D016896:Treatment Outcome; D014770:Virilism / Q000235:genetics / Q000523:psychology / Q000601:surgery
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase