Condition: Primary hypogonadism


rs1565572949 in LOC105369759;DHH gene and Primary hypogonadism PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs864309645 in SOHLH1 gene and Primary hypogonadism PMID 25774885 2015 Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.