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Article

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

Pediatric surgery international - 1 Jul 2013

Kırlı Elif Altınay, Karnak İbrahim, Ciftci Arbay Ozden, Kandemir Nurgün, Tanyel F Cahit, Şenocak Mehmet Emin

Abstract excerpt

PURPOSE: 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. METHODS: The records of 11 children...

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PMID: 23624815
DOI: 10.1007/s00383-013-3319-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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