Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel <i>KISS1R/GPR54</i> Loss-of-Function Mutation
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چکیده
منابع مشابه
Gonadotropins in Infertile Men with Idiopathic Hypogonadotropic Hypogonadism
Background Stimulatory therapy with gonadotrpins is an effective treatment to induce spermatogenesis in men with idiopathic hypogonadotroptic hypogonadism (IHH). The aim of this study was to assess the effectiveness of human chorionic gonadotropin / human menopausal gonadotropin on hypogonadotropic infertile men. MaterialsAndMethods This study included fifty-six azoospermic infertile men with I...
متن کاملA female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.
Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skel...
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 کاملLoss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Gonadotropin-releasing hormone (GnRH) deficiency in the human presents either as normosmic idiopathic hypogonadotropic hypogonadism (nIHH) or with anosmia [Kallmann syndrome (KS)]. To date, several loci have been identified to cause these disorders, but only 30% of cases exhibit mutations in known genes. Recently, murine studies have demonstrated a critical role of the prokineticin pathway in o...
متن کاملA novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pitui...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2019
ISSN: 1308-5727,1308-5735
DOI: 10.4274/jcrpe.galenos.2019.2018.0230