Abstract
Aim: To analyze a single-centre experience in feminizing genitoplasty in virilized girls with congenital adrenal hyperplasia (CAH). Methods: Review of medical records of all 46, XX CAH patients undergoing single stage feminizing genitoplasty between 2003 and 2018 was performed. Results: A total of 31 girls aged from 4 months to 10 years were included in the study. The majority (n = 26/31, 84%) were operated before 2 years of age (median 8 months). External virilization was rated as Prader 3 (n = 7/31), Prader 4 (n = 21/31) and Prader 5 (n = 3/31). The urethrovaginal confluence location was low in 19 and high in 12 girls with a percentage distribution similar in Prader 4 and 5 (p > 0.05) but significantly different in Prader 3 (p = 0.017). The follow-up ranged from 12 months to 15 years. All parents assessed the cosmetic result as satisfactory. Perioperative complications occurred in two patients and included rectal injury (n = 1/31) and prolonged bleeding (n = 1/31). Three patients developed late complications including labial atheromas (n = 2/31) and vaginal stricture requiring surgical dilatation (n = 1/31). Low confluence did not decrease the risk of complications. Conclusions: Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients’ satisfaction.
Highlights
Virilization of female genitalia in congenital adrenal hyperplasia (CAH) is a result of enzymatic deficiencies in the adrenal steroidogenesis which increases production of androgens
Female gender identity can be expected in a person with 46,XX karyotype and CAH, early feminizing genitoplasty in these cases seems to be justified
The medical records of 46,XX CAH patients operated by single surgeon (GK) in 2003–2018, with 12 moTnhtehms oerdmicaolrerefcoolrlodws o-uf p46,wXeXreCrAeHtropsapteiectnitvseolypereravtieedwbedy.sTinhgelefoslulorwgeionng wina2s0a0n3a–l2y0z1e8d, :waigteh o1f2ompoenrathtesdogr imrlso,redefoglrleoewo-fuepx,twerenraelrvetirroilsizpaetcitoivne, llyocraetvioienwoefdu. rTehtherfoovllaogwininagl cdoantfaluweanscaen(haliygzhevds: .algoewo),f eoaprelyraatnedd glairtelsc, odmegprleiceaotifoenxst.eTrnhaelavniarillyizzeadtiognr,oluopcactoionnsisotfeudroefth3r1ogviarglsin; 2a9l cgoirnlfls uweinthce2(1h-ihgyhdvrosx. ylolawse), deaefrilcyieanncdylaantedc2omgirpllsicwatiitohn1s1.βT-hheydarnoaxlyylzaesde gdreofuicpiecnocnys. isted of 31 girls; 29 girls with 21-hydroxylase deficiency and 2 girls with 11β-hydroxylase deficiency
Summary
Virilization of female genitalia in congenital adrenal hyperplasia (CAH) is a result of enzymatic deficiencies in the adrenal steroidogenesis which increases production of androgens. Deficiency of 21-hydroxylaze is the cause of CAH in over 90% of cases [1]. Female gender identity can be expected in a person with 46,XX karyotype and CAH, early feminizing genitoplasty in these cases seems to be justified. Surgical correction of even very severe virilization in female patients with CAH can restore female-pattern appearance of the genitalia. Some patients’ associations recommend postponing the surgery to the age when the patient can consciously consent for the suggested operation [2,3]. According to the current Endocrine Society guidelines in minimally virilized girls, observation or delayed surgery are preferred, in severe virilized CAH females, early reconstruction is recommended [4]. A preferable surgical method is an early, single-stage clitoro-vaginolabio-plasty
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