Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene.

doi:10.1002/ajmg.1320570315

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Article

Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene.

American journal of medical genetics - 3 Jul 1995

Turner B, Fechner P Y, Fuqua J S, Marcantonio S M, Perlman E J, Vordermark J S, Berkovitz G D

Abstract excerpt

We have evaluated 3 individuals with a rare form of 46,XX sex reversal. All of them had ambiguous external genitalia and mixed wolffian and müllerian structures, indicating both Leydig cell and Sertoli cell dysfunction, similar to that of patients with true hermaphroditism. However, gonadal tissue was not ovotesticular but testicular with varying degrees of dysgenesis. SRY sequences were absent in genomic DNA...

Topics

Child
DNA-Binding Proteins
Disorders of Sex Development
Female
Humans
Infant, Newborn
Leydig Cells
Male
Nuclear Proteins
Phenotype
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Restriction Mapping

Sertoli Cells

Sex Differentiation

Sex-Determining Region Y Protein

Transcription Factors

Y Chromosome

Source

Open in PubMed

Identifiers

PMID: 7677147
DOI: 10.1002/ajmg.1320570315

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7677147-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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