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Submitted on March 12, 2007
Accepted on November 8, 2007
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden; Pediatric Surgery, Queen Silvia Children's Hospital, Gothenburg, Sweden; Department of Clinical Sciences, Karolinska Institutet, Danderyd Hospital, Division of Psychiatry, Stockholm, Sweden; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden; Department of Endocrinology, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Women and Child Health, Karolinska Institutet, Stockholm, Sweden
* To whom correspondence should be addressed. 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 years and 62 age-matched controls to correlate findings of both operative method and mutation.
Design: Semi-structured interviews were performed in cases and controls as well as a gynecologic 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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