نتایج جستجو برای: idiopathic hypogonadotropic hypogonadism

تعداد نتایج: 66457  

Journal: :The Journal of clinical investigation 2008
John Falardeau Wilson C J Chung Andrew Beenken Taneli Raivio Lacey Plummer Yisrael Sidis Elka E Jacobson-Dickman Anna V Eliseenkova Jinghong Ma Andrew Dwyer Richard Quinton Sandra Na Janet E Hall Celine Huot Natalie Alois Simon H S Pearce Lindsay W Cole Virginia Hughes Moosa Mohammadi Pei Tsai Nelly Pitteloud

Idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome; KS) or with a normal sense of smell (normosmic IHH; nIHH) are heterogeneous genetic disorders associated with deficiency of gonadotropin-releasing hormone (GnRH). While loss-of-function mutations in FGF receptor 1 (FGFR1) cause human GnRH deficiency, to date no specific ligand for FGFR1 has been identified in GnRH n...

Journal: :Neuroendocrinology 2010
Ravikumar Balasubramanian Andrew Dwyer Stephanie B Seminara Nelly Pitteloud Ursula B Kaiser William F Crowley

Evolutionary survival of a species is largely a function of its reproductive fitness. In mammals, a sparsely populated and widely dispersed network of hypothalamic neurons, the gonadotropin-releasing hormone (GnRH) neurons, serve as the pilot light of reproduction via coordinated secretion of GnRH. Since it first description, human GnRH deficiency has been recognized both clinically and genetic...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2013
Luis Eduardo P Calliari Mylene N Rocha Osmar Monte Carlos Alberto Longui

Mutation on NROB1 (DAX1) gene can cause different phenotypes of adrenal insufficiency in infancy. Long-term evolution of these patients shows that it is possible to have an association with hypogonadotropic hypogonadism. In this article we describe the evolution of a patient with NROB1 gene mutation, diagnosed with a mild form of adrenal insufficiency, and we highlight the presence of hypogonad...

Arabipoor A Bagheri Lankarani N Etminan J Ghaffari F, Shahrokh Tehraninejad E

Background: To evaluate the outcomes of using in vitro fertilization (IVF)/ intracytoplasmic sperm injection (ICSI cycle) techniques in hypogonadotropic hypogonadism women and comparing them to women with tubal factor infertility. Materials and Methods: Data from 81 hypogonadotropic hypogonadism (HH) patients treated with IVF/ICSI in the period from early 2009 until the end of 2010 were analyze...

Journal: :The Journal of clinical endocrinology and metabolism 2001
N Pitteloud P A Boepple S DeCruz S B Valkenburgh W F Crowley F J Hayes

Mutations in the GnRH receptor (GnRH-R) gene have been reported to cause idiopathic hypogonadotropic hypogonadism (IHH). Herein, we describe a 26-yr-old male with a mild phenotypic form of IHH, the fertile eunuch syndrome (IHH in the presence of normal testicular size and some degree of spermatogenesis), associated with a homozygous mutation (Gln106Arg) in the GnRH-R. This mutation, located in ...

Journal: :Canadian Medical Association journal 1974
R Matte P D'Amour C Faiman J S Winter

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...

Journal: :Hormones 2014
Carmen Entrala-Bernal Cristina Montes-Castillo Maria Jesus Alvarez-Cubero Carmen Gutiérrez-Alcántara Francisco Fernandez-Rosado Esther Martinez-Espίn Carolina Sánchez-Malo Piedad Santiago-Fernández

Kallmann Syndrome (KS) is a genetic disease of embryonic development which is characterized by the association of hypogonadotropic hypogonadism (HH) due to a deficit of the gonadotropin-releasing hormone (GnRH) and a hypo/anosmia (including a hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs). Even though it is a genotypically and phenotypically heterogeneous clinical disease, ...

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