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Feminizing genitoplasty for Congenital Adrenal Hyperplasia (CAH)

Sofia Morão1, Vanda Pratas Vital2, Fátima Alves2, Filipe Catela Mota2, João Pascoal1

1 Department of Pediatric Surgery of Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Portugal
2 Pediatric Urology Unit, Department of Pediatric Surgery of Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Portugal

- XIV Simpósio Associação Portuguesa de Urologia – Fronteiras em Urologia, Tróia, 28 a 30 de Outubro 2016. (Poster)

Introduction: The majority of neonates with external genital ambiguity-disorder of sexual development (DSD)-fall into the category of 46, XX-CAH. All patients have a 46,XX genotype and exclusively ovarian tissue in nonpalpable gonads. Simplistically, the cause of the gender ambiguity is an excess of androgen. These patients have a normal female müllerian ductal system with an upper vagina, uterus, fallopian tubes and normal regression of the wolffian ducts. The level of virilization is largely dependent on the timing and magnitude of androgen exposure to the external genitalia. Debate exists mainly regarding the optimal timing and extent of genital reconstruction for these children. Additionally, the surgical reconstruction itself can be difficult, requiring meticulous attention to detail and tissue handling. The degree of virilization and level of the confluence of the vagina with the urogenital sinus is variable and unique to each girl is classified by Rink Scale (PVE). There are several options for surgical repair of these anomalies, which must be matched to the anatomy of the child to achieve a functional and cosmetic outcome.
Objective: Raise awareness and promoting debating about this type of disorders.
Methods: We describe a case of a child who was referred to our Center with 5 days of life with diagnosis of CAH.
Results: Physical examination showed a stage III according to Prader Scale, with hyperpigmented empty scrotum. Radiologic investigation revealed hyperplasia of adrenal glands, presence of normal uterus, ovaries, upper vagina, normal kidneys and bladder. Cariotype was 46, XX. She was given hydrocortisone, fludocortisone and sodium chloride. An endoscopy showed a Rink Scale P5, 1.5 V1, 4 E4 malformation and a feminizing genitoplasty by Pippi Salle technique, with conservation of corpora cavernosa, were peformed at 18 months of age, without intra or post-operative complications. She was discharged at fifth postoperative day. Follow-up is maintained in both Endocrinology and Surgery appointments.
Conclusion: Full disclosure of all of the relevant issues regarding timing and extent of surgery must be related to the family of these children, allowing the families to make truly informed decisions. The surgeon must be aware of the anatomy of each child and which repairs are therefore appropriate. Long-term follow-up (after initiation of sexual activity) is extremely important to provide these patients with not only good cosmetic, but also good functional outcomes.

Palavras-chave: feminizing genitoplasty; disorder of sexual development