A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene
نویسندگان
چکیده
منابع مشابه
R31C 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 کاملNovel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism.
We report a novel GNRHR mutation in a male with normosmic isolated hypogonadotropic hypogonadism (nIHH). The coding region of the GNRHR gene was amplified and sequenced. Three variants p.[Asn10Lys;Gln11Lys]; [Tyr283His] were identified in the GNRHR coding region in a male with sporadic complete nIHH. The three variants were absent in the controls (130 normal adults). Familial segregation showed...
متن کاملTwo novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.
OBJECTIVE Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the cause of isolated hypogonadotropic hypogonadism (HH). We describe the molecular investigations of the GnRHR gene in two siblings affected by HH and their clinical course. DESIGN The female was referred at age 14 for pubertal delay with no secondary sexual signs, whereas the male had been followed since pre...
متن کاملReversal of idiopathic hypogonadotropic hypogonadism.
BACKGROUND Idiopathic hypogonadotropic hypogonadism, which may be associated with anosmia (the Kallmann syndrome) or with a normal sense of smell, is a treatable form of male infertility caused by a congenital defect in the secretion or action of gonadotropin-releasing hormone (GnRH). Patients have absent or incomplete sexual maturation by the age of 18. Idiopathic hypogonadotropic hypogonadism...
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ژورنال
عنوان ژورنال: Medicine
سال: 2021
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000024007