Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
نویسندگان
چکیده
منابع مشابه
Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. H...
متن کاملR31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism
Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four u...
متن کاملIdiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1
OBJECTIVE What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH). METHODS A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing. RESULTS Our studies revealed thr...
متن کاملComplete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
In this study, we describe a patient with a phenotype of complete hypogonadotropic hypogonadism who presented primary failure of pulsatile GnRH therapy, but responded to exogenous gonadotropin administration. This patient bore a novel point mutation (T for A) at codon 168 of the gene encoding the GnRH receptor (GnRH-R), resulting in a serine to arginine change in the fourth transmembrane domain...
متن کاملI-3: Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism (HH) is an uncommon cause of male infertility and a congenital or secondary disorder characterized by delayed or absent sexual maturation. Congenital abnormalities leading to HH are usually the consequence of deficient GnRH secretion occurring either in isolation (idiopathic hypogonadotropic hypogonadism (IHH)), or in association with anosmia (Kallmann syndrome; KS...
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ژورنال
عنوان ژورنال: Obstetrical & Gynecological Survey
سال: 2012
ISSN: 0029-7828
DOI: 10.1097/ogx.0b013e31825bc1be