A novel variant inLCHGRgene in 3 siblings with type 1 Leydig cell hypoplasia

Abstract excerpt

Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea. In this article, the cases of three siblings who presented with primary amenorrhea and who had LCH were presented.Case A 16-year-old patient with...

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