ESPE Abstracts (2016) 86 P-P1-359

Feasibility Study for Avoiding Early Surgery in Girls with 21-Hydroxylase Deficiency (21OHD)

Pierre Bougnèresa, Claire Bouvattiera, Maryse Cartignyc & Lina Michalab


aPediatric Endocrinology, Bicêtre, France; bChild Adolescent Gynaecology, Athens, Greece; cPediatric Endocrinology, Lille, France


Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the 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.

Objective and hypotheses: To assess the feasibility of following up 21OHD non-operated patients into adolescence, so as to determine changes in genital morphology and acceptability among patients and parents of such an approach.

Method: Parents were offered to delay genital surgery until adolescence. All were clear about their decision to defer surgery and fully aware of the pros and cons based on current evidence. We collected data on control, growth, size of the clitoris and subjective measures of adjustment or concerns among parents and patients.

Results: After observing a ‘pilot patient’, we left six other patients with 21OHD and Prader 3–4 at birth (clitoris 20–26 mm, testosterone 6–15 ng/ml) unoperated and treated with 50 mg hydrocortisone and 50 μg fludro per m2.day. Testosterone became <0.02 ng/ml in all. Clitoral size decreased both in true and relative terms as the child grows, to reach 5–15 mm at last exam at 1.5–8 years of age. Child and parents seemed to live non-intervention without specific psychological difficulties regarding genital ambiguity.

Conclusion: Our data so far suggest that it is acceptable to defer genital operation. Surgery will be performed by a gynecologist with experience in vaginal reconstructive surgery. Ultimate outcome measures will be adaptation, sexual function and satisfaction in late adolescence and adulthood, using qualitative data similar to those previously used by our team to assess comparable 21OHD women operated in childhood (Gastaud F, 2007).

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