An unexpected diagnosis in children with male phenotype and bilateral nonpalpable gonad: congenital adrenal hyperplasia with female genotype

Kirli E. A. , KARNAK İ., ÇİFTÇİ A. Ö. , KANDEMİR N., TANYEL F. C. , Senocak M. E.

PEDIATRIC SURGERY INTERNATIONAL, vol.29, no.7, pp.719-724, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 7
  • Publication Date: 2013
  • Doi Number: 10.1007/s00383-013-3319-3
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.719-724
  • Hacettepe University Affiliated: Yes


Female pseudohermaphroditism is the most frequent form of ambiguous genitalia in children with congenital adrenal hyperplasia (CAH). However, a small group of children with complete urethral development in contrast to 46XX karyotype can be encountered. We aimed to define the characteristics of patients with 46XX CAH but having fully developed male external genitalia.