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Article

A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.

Hormones (Athens, Greece) - 1 Mar 2024

Wang Juanjuan, Sun Yafeng, Deng Qian, Wang Xin, Cai Wenjuan, Chen Yuqing

Abstract excerpt

PURPOSE: Disorders of sex development (DSD) have complex pathogenesis, and evidence suggests an association between MAMLD1 defects and DSD. MAMLD1 is expressed in gonadal tissues and affected males exhibit hypospadias, steroid hormone abnormalities, or gonadal underdevelopment. We performed genetic testing on a newborn patient with severe hypospadias and an elevation of 17-hydroxyprogesterone (17α-OH) for the...

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Identifiers

PMID: 37996649
DOI: 10.1007/s42000-023-00513-y

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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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