The molecular basis for inherited forms of human hypogonadotropic hypogonadism (HH) is understood for only about 10% of the cases. Two X-linked recessive forms (affecting only males), Kallmann syndrome and adrenal hypoplasia congenita/HH, have been characterized at the molecular level. Mutations in the gonadotropin-releasing hormone receptor cause autosomal recessive HH. In obese individuals with HH, autosomal recessive mutations in both the leptin gene and the leptin receptor gene have been characterized. Other autosomal recessive causes of human HH include mutations in gonadotropin-beta subunits and PROP1. These observed mutations in human HH increase our understanding of the pathogenesis of the disorder and, perhaps more importantly, of normal pubertal processes.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism