Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications
نویسندگان
چکیده
منابع مشابه
Phenotypic spectrum and hormonal profile in hypogonadotropic hypogonadism
BACKGROUND Hypogonadotropic hypogonadism (HH) is characterized by inappropriately low serum concentration of LH (luteinizing hormone) and FSH (follicle-stimulated hormone) in the setting of hypogonadism. A number of pathologic processes cause Hypogonadotropic hypogonadism but it can also occur as a part of various congenital syndromes. Objectives. To characterize the morphotypes and the hormona...
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 کاملPrevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Mutations in the GnRH receptor (GNRHR) have been described as a cause of reproductive failure in a subset of patients with idiopathic hypogonadotropic hypogonadism (IHH). Given the apparent rarity of these mutations, we set out to determine the frequency and distribution of GNRHR mutations in a heterogeneous population of patients with IHH who were well characterized with respect to diagnosis, ...
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...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2012
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2011-2041