Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism
نویسندگان
چکیده
Background: Male idiopathic hypogonadotropic hypogonadism (IHH) is a heterogeneous clinical rare genetic disorder that can be divided into two forms: Kallmann syndrome (KS) and olfactory normal IHH (nIHH). Nearly half of unknown pathogenic genes related mechanisms have yet to explored.
منابع مشابه
Molecular defects of the GNRH receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism
BACKGROUND Human mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene cause normosmic idiopathic hypogonadotropic hypogonadism (IHH). At least 19 different mutations have been identified in this G-protein-coupled receptor, which consist mostly of missense mutations. OBJECTIVES To identify and determine the frequency of mutations in the coding region of the gonadotropin-releas...
متن کاملClinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism
OBJECTIVE To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH). METHODS We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management and fertility outcomes of 138 women with IHH. All patients had been treated and followed up at an academic medical centre during 1990-2016. RESULTS Among the...
متن کاملGonadotropins 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 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 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...
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ژورنال
عنوان ژورنال: Translational Andrology and Urology
سال: 2023
ISSN: ['2223-4683', '2223-4691']
DOI: https://doi.org/10.21037/tau-23-225