46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review

20260 citationsJournal Article

Authors

Shaila Sanjay Pachapure · Jawaharlal Nehru Medical College

Akshay Kalavant B · Sri Dharmasthala Manjunatheshwara College of Dental Sciences & Hospital

Santosh Kurbet · Jawaharlal Nehru Medical College

Vijaya Sarathi · Bangalore Medical College and Research Institute

Abstract

Testicular development was defective in all PCH7 patients but was variable, with the predominant phenotypic manifestation being testicular regression syndrome/partial gonadal dysgenesis with Müllerian duct regression (TRS/PGD-MDR).

Topics & Keywords

Fetal and Pediatric Neurological Disorders Congenital gastrointestinal and neural anomalies Spinal Dysraphism and Malformations

Publication Details

Published in: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0626

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46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review

Authors

Abstract

Topics & Keywords

Publication Details