Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in cortisol and aldosterone deficiency and increased prenatal androgen, causing virilization of external genitalia in females. Early genital surgery has therefore been common practice, but reports on unsatisfactory long-term outcomes have resulted in postponing surgery to an age when the girl can participate in the decision. However, the psychological impact of this change in practise on families has rarely been studied.

Methods: Participants with CAH from different DSD centres in Sweden aged 0-18 years and their parents have been interviewed with a semi-structured interview to access their history, well-being, anxiety; in general and specifically concerning genital surgery. The group was divided into girls operated in early age (2), girls who had not been operated (17) and boys (14). Boys with CAH were used as baseline to understand the impact of CAH on the families. The girls were asked if and to what extend their clitoris was visible when standing up. The study is still ongoing.

Preliminary results: A total of 36 family interviews have been conducted, including two families who have been interviewed both before and during puberty. The children were interviewed from the age of 5.Parental anxiety concerning CAH reduces over time with a peak in the newborn period. No significant differences between the groups could be detected. Parents to girls without early surgery expressed worries concerning the possibly upcoming operation and about problems related to the appearance of their daughters’ genitals, regarding social interaction with peers, partners and future sexual function. The patients with CAH expressed no worries about CAH. The girls described their clitoris to be slightly visible and were less concerned regarding a future genital operation than their parents. The girls liked to go to school, have friends, and participate largely in different sports.

Conclusions: Postponing the genital operation did not seem to significantly affect the overall anxiety concerning CAH. Parents expressed concerns related to the appearance of their daughters’ genitals while the girls were less concerned and seemed not to be limited in their social interactions.