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Article

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.

Journal of endocrinological investigation - 1 Jan 2021

Costagliola G, Cosci O di Coscio M, Masini B, Baldinotti F, Caligo M A, Tyutyusheva N, Sessa M R, Peroni D, Bertelloni S

Abstract excerpt

PURPOSE: 46, XY disorders (or differences) of sex development (DSD) are a group of clinical conditions with variable genetic background; correct diagnosis is often difficult, but it permits to optimize the management. The aim of this study is to identify clinical and genetics features of a group of women with 46, XY DSD to define some issues characterizing people with 46, XY DSD in Italy. METHODS: Retrospective...

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PMID: 32378143
DOI: 10.1007/s40618-020-01284-8

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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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