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August 20, 2024Endocrine ConnectionsOpen Access

LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients

Rohit Barnabas Swati Jadhav Anurag Lila Sirisha Kusuma Boddu Saba Samad Memon Sneha Arya Samiksha Hegishte Manjiri Karlekar Virendra Patil Vijaya Sarathi Nalini S. Shah Tushar Bandgar

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Abstract

The data on Leydig cell hypoplasia (LCH) resulting from biallelic Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) inactivating variants is limited to case series.

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Barnabas et al. (2024) studied this question.

synapsesocial.com/papers/68e5b9b2b6db64358755208b https://doi.org/10.1530/ec-24-0246

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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