Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.
Patients and Methods: All cases that had been classified in the I-DSD and I-CAH registries as 46XX CAH born prior to 2017 were identified (555 participants in 41 centres, born 1953-2016). Centres were approached to obtain additional information in each eligible case on factors that influenced the option of performing surgery, timing and type of surgery. 330 participants were suitable for analysis.
Results: 208 (63%) presented within the first month of life; 306 (93%) had 21-hydroxylase deficiency. 326 (99%) cases were raised as girls after birth. At latest assessment, 329 (99.6%) cases had a female sex assignment. Genital surgery has been performed in 251 (76%). Clitoral surgery been performed in 231 (92%), vaginal surgery in 204 (81%) and a combination of clitoral and vaginal surgery had been performed in 186 (74%). Of the 251 who had surgery, 18 (7%) had vaginal but no clitoral surgery whilst 42 (17%) had clitoral but no vaginal surgery. Mean age at first surgery was 2.5 years (0-15), with clitoral surgery and vaginal surgery at 2.6 years (range) and 3.2 years (range), respectively. In a logistic regression model it could be shown that there was a negative trend for surgery over time. Moreover, there was a significant trend towards surgery before 24 months of life over time. However, there were significant geographic differences in the probability/incidence of genital surgery: Europe 64%, Asia 97%, South America 89%. The Chicago Consensus Statement on DSD (comparison of data before and after 2006) did not have any significant influence on the timing or probability of surgery. Last but not least, age at first assessment showed to have a mild negative but non-significant effect on the probability of surgery.
Discussion: This is the largest international study to analyse the current surgical approach towards CAH. There are geographic and sociocultural differences. There is a trend towards avoiding/postponing surgery, especially in Europe. Moreover, there is a significant trend towards surgery before 24 months of life.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology