InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism
نویسندگان
چکیده
منابع مشابه
I-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...
متن کاملFamilial hypothalamic hypogonadotropic hypogonadism.
Clinical findings and endocrine studies are reported concerning six subjects (from two pedigrees) suffering from isolated hypogonadotropic hypogonadism. Their complete lack of any gonadotropin response to clomiphene stimulation, together with positive responses of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) to LH-releasing-hormone stimulation (LH-RH) provide evidence for a h...
متن کاملHypogonadotropic Hypogonadism Revisited
Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic). Hypogonadotropic hypogonadism can be congenital or acquired. Congenital hypogonadotropic hypogonadism is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome) and congenital normosmic iso...
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...
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...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2012
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1111184