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Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia

Departments of Molecular Medicine and Surgery (A.N., L.F., H.Fa., M.T.) and Women and Child Health (K.H.), Karolinska Institutet, SE-171 76 Stockholm, Sweden; Pediatric Surgery (A.N.), Astrid Lindgren Children Hospital, and Department of Endocrinology, Metabolism and Diabetes (H.Fa., M.T.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Pediatric Surgery (G.H.), Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden; Department of Clinical Sciences (L.F.), Karolinska Institutet, Danderyds Hospital, Division of Psychiatry, SE-182 87 Stockholm, Sweden; and Departments of Endocrinology (H.Fi.) and Obstetrics and Gynecology (P.O.J.), Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden

Address all correspondence and requests for reprints to: Agneta Nordenskjöld, CMM 02, Karolinska University Hospital, SE-171 76 Stockholm, Sweden. E-mail: agneta.nordenskjold{at}ki.se.

Context: In congenital adrenal hyperplasia (CAH) caused by different mutations, feminizing surgery is mostly performed in childhood, and many patients are lost to follow-up.

Objective/Patients: A follow-up study on 62 CAH women aged 18–63 yr and 62 age-matched controls to correlate findings of both operative method and mutation was performed.

Design: Semistructured interviews were performed in cases and controls, as well as a gynecological examination in the cases. The results were correlated with disease-causing mutations and earlier surgical procedures if performed.

Setting: The study was conducted at university hospital referral clinics.

Main Outcome Measures: Gynecological examination in all cases correlated to previous surgery (n = 49), type of mutation, and questionnaire responses.

Results: Half of the CAH women claimed that the disease affected their sex life. The women were less satisfied with their genitals, whether operated or not. Clitoris size and functions were affected by the surgical method. Five women had a clinically evident vaginal stenosis on examination. However, almost half of patients experienced a narrow vagina. The overall psychosexual aspects of life were affected in these patients with later sexual debut, fewer pregnancies and children, and an increased incidence of homosexuality. These quality of life factors were correlated to the severity of the mutations.

Conclusions: The overall quality of life in adult women with CAH is affected both by the type of mutation and operative procedure. Indications for clitoroplasty should be restrictive. Medical, surgical, and psychological treatment should be centralized.

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