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Article

Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

Indian journal of pediatrics - 1 Aug 2025

Palui Rajan, Ravichandran Lavanya, Kamalanathan Sadishkumar, Chapla Aaron, Sahoo Jayaprakash, Narayanan Niya, Naik Dukhabandhu, Thomas Nihal

Abstract excerpt

OBJECTIVES: To evaluate the clinical, hormonal and genetic characteristics of 46XY disorders of sexual development (DSD) patients from South India. METHODS: 46XY DSD patients with a provisional diagnosis of 17β-hydroxysteroid dehydrogenase 3 (17BHSD3) deficiency, 5 alpha-reductase type 2 deficiency (5ARD2) or partial androgen insensitivity syndrome (PAIS) based on clinical and hormonal analysis were included in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38761274
DOI: 10.1007/s12098-024-05144-8

Genes

AR
HSD17B3
SRD5A2

Provenance

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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