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Article

Female phenotype with male karyotype: a clinical enigma.

BMJ case reports - 9 May 2017

Sukumar Suja, Uppula Pavan, Kumar Santosh, Bhansali Anil

Abstract excerpt

Development of gonadal and phenotypic sex during embryogenesis invariably corresponds to the genotypic sex. However, some disorders of sex development are associated with discordance between the chromosomal, gonadal or phenotypic sex which include complete androgen insensitivity syndrome, 46XY complete gonadal dysgenesis (Swyer syndrome) and, rarely, congenital adrenal hyperplasia due to CYP 17A1...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Steroid 17-alpha-Hydroxylase

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Identifiers

PMID: 28487303
DOI: 10.1136/bcr-2016-219082
PMCID: PMC5612453

Provenance

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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