Complex urogenital malformation associated with female pseudohermaphroditism: Caudal dysgenesis syndrome

ABACI A., Atas A., Bober E., Ates O., HAKGÜDER F. G., Buyukgebiz A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.19, sa.9, ss.1171-1174, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 9
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1515/jpem.2006.19.9.1171
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1171-1174
  • Anahtar Kelimeler: female pseudohermaphroditism, caudal dysgenesis, urethral atresia, SEQUENCE
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

Caudal dysgenesis syndrome is a rare cause of female pseudohermaphroditism. This syndrome consists of absent perineal and anal openings in association with ambiguous genitalia, urogenital, colonic, and lumbosacral anomalies. We report a case of caudal dysgenesis syndrome in an infant who had non-palpable testes, bifid scrotum, a phallus-like structure and urethral atresia. Radiological evaluation revealed bilateral hydronephrosis, bifid uterus, cervix and vagina. Caudal dysgenesis syndrome should be considered in any female infant presenting with bilateral streak ovaries, and Mullerian and genito-urinary anomalies.