Introduction: Hydrometrocolpos (HMC) develops in a female child as a result of a vaginal outflow tract obstruction and accumulation of secretions. HMC can have associated with other malformations or associated syndromes. Imperforated hymen, vaginal atresia, persistent urogenital sinus, and cloacal malformation, are the common causes for HMC. Congenital adrenal hyperplasia causing androgen exposure during the fetal life leads to varying degree of ambiguous genitalia. Androgen exposure before 12 weeks of gestation leads to, labial fusion and persistent urogenital sinus (PUGS). Accumulation of bladder and vaginal contents in the common channel leads to pressure effect which can leads to bladder outflow obstruction (BOO) and varying degree of hydronephrosis.
Case report: A term infant presented with abdominal distension, bilateral ballotable masses and clitoromegaly. No palpable gonads were identified in the labioscrotal folds or in the perineum. She had urethral opening without separate vaginal orifice. Anal opening in the normal position. Ultra sound (US) abdomen and pelvis revealed distended bladder, bilateral severe hydronephrosis. Right side ovary was identified and it was normal in size. There was a well define cystic area, posterior to the bladder suggestive of hydrometrocolpos possibly due to PUGS. BOO and bilateral sever hydronephrosis caused hypertension, which needed vesicostomy. After decompression of BOO follow up US showed normal kidneys without hydronephrosis. Karyotyping reveled 46,XX and the baby had elevated 17 hydroxy progesterone, which confirmed the diagnosis of congenital adrenal hyperplasia. She was started on hydrocortisone and fludrocortisone and arranged micturating cystourethrogram to confirm the diagnosis. She is awaiting definitive surgical correction of PUGS.
Conclusion: This case highlights the varying degree of urogenital abnormality caused in CAH. Multidisciplinary care is needed for patients with androgenital syndrome in CAH.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology