Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Creative Commons License

Bayram Y., Gulsuner S., GÜRAN T., Abaci A., Yesil G., Gulsuner H. U., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.100, no.5, 2015 (SCI-Expanded) identifier identifier identifier


Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function.