Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort
Sign Up to like & getrecommendations! Published in 2022 at "Andrologia"
DOI: 10.1111/and.14583
Abstract: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetically heterogeneous disease and characterized by incomplete or absent puberty and infertility. It is worth noting that partial IHH patients could recover reproductive endocrine function following treatment, which… read more here.
Keywords: idiopathic hypogonadotropic; reversal group; hypogonadotropic hypogonadism; reversal ... See more keywords
DLG2 mutations in the etiology of pubertal delay and Idiopathic Hypogonadotropic Hypogonadism.
Sign Up to like & getrecommendations! Published in 2021 at "Hormone research in paediatrics"
DOI: 10.1159/000520409
Abstract: INTRODUCTION Idiopathic Hypogonadotropic hypogonadism (IHH) is caused by dysfunction of the hypothalamic-pituitary-gonadal axis. DLG2 was recently implicated as a gene associated with delayed puberty and which may also contribute to IHH. The confirmation of the… read more here.
Keywords: dlg2 mutations; idiopathic hypogonadotropic; hypogonadotropic hypogonadism; etiology ... See more keywords
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism
Sign Up to like & getrecommendations! Published in 2022 at "Hormone Research in Paediatrics"
DOI: 10.1159/000525769
Abstract: Introduction: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare reproductive disorder resulting from gonadotropin-releasing hormone (GnRH) deficiency. However, in only approximately half of patients with IHH is it possible to identify a likely molecular diagnosis. Mice… read more here.
Keywords: ihh; slit2; idiopathic hypogonadotropic; rare sequencing ... See more keywords
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms
Sign Up to like & getrecommendations! Published in 2023 at "JCI Insight"
DOI: 10.1172/jci.insight.164324
Abstract: Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped cohort of patients with idiopathic hypogonadotropic… read more here.
Keywords: sox2; idiopathic hypogonadotropic; sox2 variants; hypogonadotropic hypogonadism ... See more keywords