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Article

Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.

The Journal of international medical research - 1 Mar 2021

Zhou Yang, Xue Xue, Shi Panpan, Lu Qinrui, Lv Shulan

Abstract excerpt

BACKGROUND: We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork. CASE PRESENTATION: A 14-year-old patient with a female phenotype...

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Identifiers

PMID: 33761789
DOI: 10.1177/0300060521993965
PMCID: PMC8165845

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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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