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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants.

Genes - 31 May 2023

Stuckey Bronwyn G A, Jones Timothy W, Ward Bryan K, Wilson Scott G

Abstract excerpt

A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty. This led to further genetic sequencing of the patient and his son, which found a...

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PMID: 37372384
DOI: 10.3390/genes14061204
PMCID: PMC10298326

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