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Article

46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.

International journal of molecular sciences - 14 Jan 2026

Correa Brito Lourdes, Suco Sofía, Casali Bárbara, Villegas Florencia, Scaglia Paula, Izquierdo Agustín, Lopez Dacal Jimena, Podestá Miguel, Medin Martín, Grinspon Romina P, Ropelato María Gabriela, Rey Rodolfo A

Abstract excerpt

Complex genetic syndromes represent a diagnostic challenge due to their diverse phenotypic presentations, which often evolve over time and may not be fully evident at birth. Disorders of sex development (DSD) comprise congenital conditions with discordance between chromosomal, gonadal, and/or genital sex. In 46,XY gonadal dysgenesis, undervirilisation or female-appearing genitalia may occur despite a normal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41596467
DOI: 10.3390/ijms27020821
PMCID: PMC12840657

Genes

CLCN2
DVL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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