WDR11 Mutations as A Potential Player of Idiopathic Hypogonadotropic Hypogonadism
نویسندگان
چکیده
منابع مشابه
Reversal 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...
متن کاملMutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.
We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongji Hospital, Tongji Medical College, in W...
متن کاملGNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition characterized by failure to undergo puberty in the setting of low sex steroids and low gonadotropins. IHH is due to abnormal secretion or action of the master reproductive hormone gonadotropin-releasing hormone (GnRH). Several genes have been found to be mutated in patients with IHH, yet to date no mutations have been identified in t...
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 کاملStudy on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
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ژورنال
عنوان ژورنال: Biomedical Journal of Scientific & Technical Research
سال: 2020
ISSN: 2574-1241
DOI: 10.26717/bjstr.2020.28.004662