Article
Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
Molecular and cellular endocrinology - 20 Aug 2021
Louden Erica D, Poch Alexandra, Kim Hyung-Goo, Ben-Mahmoud Afif, Kim Soo-Hyun, Layman Lawrence C
Abstract excerpt
Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic, known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency, which results in absent puberty and infertility. Investigation of the genetic basis of nHH/KS over the past 35 years has yielded a substantial increase in our understanding, as variants in 44 genes in OMIM account for ~50% of cases. The first genes...
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