We report a 32-year-old female patient with severe Leydig cell hypoplasia due to a novel homozygote nonsense mutation in exon 10 (c.907C>T, p.Gln303Ter) of the lutropin/choriogonadotropin receptor gene.
Leydig cell hypoplasia (LCH) is a rare form of male pseudohermaphroditism caused by inactivating mutations in the luteinizing hormone receptor gene (LHCGR).
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain.
Severe inactivating mutations of the LHR have been recognized as the cause of Leydig cell hypoplasia, a rare form of male pseudohermaphroditism, in genetic males and as a novel cause of amenorrhea and infertility in genetic females.
Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism.