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Article

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.

Hormones (Athens, Greece) - 1 Jun 2024

Hassan Heba Amin, Mazen Inas, Elaidy Aya, Kamel Alaa K, Eissa Noura R, Essawi Mona L

Abstract excerpt

PURPOSE: Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. Patients presented with hypospadias, micropenis, undescended testes, or infertility. In this study, we report a new patient with compound heterozygous variants in the LHCGR gene and LCH type II phenotype. METHODS: Whole exome sequencing (WES) was performed followed by Sanger sequencing to confirm the detected variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38526829
DOI: 10.1007/s42000-024-00546-x
PMCID: PMC11219444

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