Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study

摘要

BackgroundGenital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20?years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence. MethodsWe followed up girls with 21 hydroxylase deficiency (21- OHD) in genital morphology during childhood and acceptability among patients and parents of such an approach. ResultsPreliminary results from 7 children, aged 1–8 years (median 4.5?years), suggest that it is acceptable among patients and families to defer genital operation in 21-OHD. All patients had a Prader stage III and above. Median clitoral length at birth was 24?mm (20-28?mm) and had diminished to a median of 9?mm (5-15?mm) at their last visit. Height and weight have remained strictly normal in all patients. So far girls and their parents have not expressed significant concerns regarding genital ambiguity. ConclusionsWith this encouraging data at hand, we propose to formally address levels of anxiety, adaptation and quality of life during childhood, with an ultimate goal to assess long term satisfaction and effects on sexuality through deferring genital surgery for adolescence.