Multiple occurrences of adrenogenital syndrome with urogenital sinus in a family

Chau-Jing Chen, S. J. Lin

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: In female patients with adrenogenital syndrome, marked clitoral hypertrophy and urogenital sinus are visible. Three of our 11 pediatric cases of congenital adrenogenital hyperplasia (CAH) with urogenital sinus (UGS) due to P450c21 oxidase enzyme deficiency belonged to a family. We present the results of treatment. The strategy of management is formulated according to these results. Methods: For patients with UGS, fibercystoscope and genitography were performed to assess the relationship among the orifice of UGS, orifice of vagina, sphincters and bladder neck. Clitoral reduction and vaginoplasty using a posterior V-shaped flap were done. Vaginal bougienage was done postoperatively for 6 months to prevent vaginal stricture. For gestations with a past history of a sister suffering from CAH and UGS, amniocentesis with polymer chain reaction (PCR) analysis was suggested. Results: This family had three girls and one boy. The eldest and youngest girls and the boy had CAH. The second girl was healthy but had some anomaly at her 6th chromosome. Ultrasound screen for the youngest sister at early gestation identified her as a healthy male fetus. The mother rejected PCR analysis. Both female patients had rather satisfactory postoperative cosmetic and functional results. Mother rejected amniocentesis in her next pregnancy; then she delivered a male baby with P450c21 oxidase deficiency. Conclusion: For pregnancies with previous history of adrenogenital syndrome, amniocentesis with PCR analysis is necessary besides ultrasound in genetic counseling. Generally, single-stage feminization genitoplasty offers excellent cosmetic and functional results for patients of adrenogenital syndrome with urogenital sinus.

Original languageEnglish
Pages (from-to)332-336
Number of pages5
JournalAsian Journal of Surgery
Volume24
Issue number4
Publication statusPublished - 2001

All Science Journal Classification (ASJC) codes

  • Surgery

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