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Article

[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2016

Zhou D Y, Qiu W J, Xu M S, Luo J H, Ye J, Han L S, Zhang H W, Yu Y G, Liang L L, Gu X F

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of an infant with isolated 17, 20-lyase deficiency. METHOD: The clinical, biochemical and genetic characteristics were analyzed in an 8-month-old infant with 46, XY gonadal dysgenesis who presented predominantly the female external genitalia. RESULT: The infant was referred because of"masses in bilateral inguinal region and 46, XY gonadal dysgenesis"....

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Source

Identifiers

PMID: 27510877
DOI: 10.3760/cma.j.issn.0578-1310.2016.08.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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