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Idiopathic Hypogonadotropic hypogonadism

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https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#1
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: GnRH neurons originate outside the central nervous system in the olfactory placode and migrate into the CNS, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to Idiopathic Hypogonadotropic Hypogonadism (IHH)/Kallmann Syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28288899/kisspeptin-10-treatment-generated-specific-gnrh-expression-in-cells-differentiated-from-rhesus-monkey-derived-lyon-nscs
#2
Tanzeel Huma, Xintian Hu, Yuanye Ma, Andrew Willden, Joshua Rizak, Muhammad Shahab, Zhengbo Wang
Embryonic stem cells (ESCs) have enormous potential as novel cell-based therapies, but their effectiveness depends on stem cell differentiation and specific signaling regulators, which remain poorly understood. In this study, a kisspeptin peptide (KP-10) was used at different dosages to determine whether rhesus macaque derived tau GFP-Lyon ES cells underwent kisspeptin specific neuronal differentiation. It was found that KP-10 exhibited an anti-proliferative effect on the cells and led to morphological changes and cellular differentiation consistent with neuronal stem cell (NSC) development...
March 10, 2017: Neuroscience
https://www.readbyqxmd.com/read/28251550/the-mystery-of-puberty-initiation-genetics-and-epigenetics-of-idiopathic-central-precocious-puberty-icpp
#3
REVIEW
Sofia Leka-Emiri, George P Chrousos, Christina Kanaka-Gantenbein
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1)...
March 1, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28217517/adolescent-gynecomastia-is-associated-with-a-high-incidence-of-obesity-dysglycemia-and-family-background-of-diabetes-mellitus
#4
Bindu Kulshreshtha, Arora Arpita, Patnaik T Rajesh, Bhattacharya Sameek, Deep Dutta, Sharma Neera, Mohsin Mohd
BACKGROUND: Gynecomastia during adolescence is common though etiology is not clear. We studied the clinical and hormonal profile of adolescent patients with gynecomastia. METHODOLOGY: Patients who had onset of breast development between age 10 and 20 years were included in this study. Their clinical profile, biochemical, and hormonal parameters were studied. RESULTS: Of 94 patients with gynecomastia, 4 had hypogonadotropic hypogonadism, 4 had hypergonadotropic hypogonadism, and 1 had fibroadenosis, but in majority (90...
January 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28103688/structure-based-substrate-specificity-analysis-of-heparan-sulfate-6-o-sulfotransferases
#5
Yongmei Xu, Andrea F Moon, Shuqin Xu, Juno M Krahn, Jian Liu, Lars C Pedersen
Heparan sulfate (HS) is a sulfated polysaccharide exhibiting essential physiological functions. HS 6-O-sulfotransferase (6-OST) transfers a sulfo group to the 6-OH position of glucosamine units to confer a variety of HS biological activities. There are three different isoforms of 6-OST in the human genome. Here, we report crystal structures of the ternary complex of 6-OST with the sulfo donor analog 3'-phosphoadenosine 5'-phosphate and three different oligosaccharide substrates at 1.95 to 2.1 Å resolutions...
January 20, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#6
LETTER
M I Stamou, P Varnavas, M Kentrou, F Adamidou, A Voutetakis, J Jing, L Plummer, V Koika, N A Georgopoulos
No abstract text is available yet for this article.
March 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27879963/hypogonadism-and-non-alcoholic-fatty-liver-disease
#7
Gesthimani Mintziori, Pavlos Poulakos, Christos Tsametis, Dimitrios G Goulis
Non-alcoholic fatty liver disease (NAFLD) is more common in men than in women. Thus, it has been suggested that sex steroids do have a role in the development of NAFLD. The aim of the current paper is to illustrate the association between NAFLD and hypogonadism, by reviewing data derived from both human and animal studies. The prevalence of NAFLD is high in men with hypogonadism, including those with idiopathic hypogonadotropic hypogonadism (IHH), as well as in women in post-menopause, those under estrogen receptor antagonist treatment or women with Turner syndrome...
June 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/27849376/clomiphene-citrate-in-the-treatment-of-idiopathic-or-functional-hypogonadotropic-hypogonadism-in-men-a-case-series-and-review-of-the-literature
#8
Yair Liel
OBJECTIVE: Late-onset hypogonadotropic hypogonadism (LOH) is a complex, heterogeneous entity. Whenever treatment is indicated, the endocrine literature has recommend testosterone replacement. We present our experience with clomiphene citrate treatment in patients with LOH and a review of the literature. METHODS: This retrospective case series included 18 male patients with hypogonadotropic hypogonadism, roughly according to the European Male Aging Study criteria for LOH, attended at an academic hospital outpatient clinic...
March 2017: Endocrine Practice
https://www.readbyqxmd.com/read/27697201/clinical-applications-of-gonadotropins-in-the-male
#9
A Ulloa-Aguirre, S Lira-Albarrán
The pituitary gonadotropins, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) play a pivotal role in reproduction. The synthesis and secretion of gonadotropins are regulated by complex interactions among several endocrine, paracrine, and autocrine factors of diverse chemical structure. In men, LH regulates the synthesis of androgens by the Leydig cells, whereas FSH promotes Sertoli cell function and thereby influences spermatogenesis. Gonadotropins are complex molecules composed of two subunits, the α- and β-subunit, that are noncovalently associated...
2016: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/27648561/nr0b1-frameshift-mutation-in-a-boy-with-idiopathic-central-precocious-puberty
#10
Hirohito Shima, Shuichi Yatsuga, Akie Nakamura, Shinichiro Sano, Takako Sasaki, Noriyuki Katsumata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yukihide Momozawa, Michiaki Kubo, Kohji Okamura, Shigeo Kure, Yoichi Matsubara, Tsutomu Ogata, Satoshi Narumi, Maki Fukami
NR0B1 is the causative gene for X-linked adrenal hypoplasia congenita, characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and infertility. We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency. Blood examination revealed elevated testosterone levels and gonadotropin hyperresponses to gonadotropin releasing hormone (GnRH) stimulation, together with normal adrenal hormone levels. GnRH analog treatment partially ameliorated his clinical features...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27616469/kisspeptin-levels-in-idiopathic-hypogonadotropic-hypogonadism-diagnosed-male-patients-and-its-relation-with-glucose-insulin-dynamic
#11
Hasan Öztin, Eylem Çağıltay, Sinan Çağlayan, Mustafa Kaplan, Yaşam Kemal Akpak, Nilay Karaca, Mesut Tığlıoğlu
Male hypogonadism is defined as the deficiency of testosterone or sperm production synthesized by testicles or the deficiency of both. The reasons for hypogonadism may be primary, meaning testicular or secondary, meaning hypothalamohypophyseal. In hypogonadotropic hypogonadism (HH), there is indeficiency in gonadotropic hormones due to hypothalamic or hypophyseal reasons. Gonadotropin-releasing hormone (GnRH) is an important stimulant in releasing follicular stimulant hormone (FSH), mainly luteinizing hormone (LH)...
December 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27512013/phenotypic-spectrum-of-polr3b-mutations-isolated-hypogonadotropic-hypogonadism-without-neurological-or-dental-anomalies
#12
Mary R Richards, Lacey Plummer, Yee-Ming Chan, Margaret F Lippincott, Richard Quinton, Philip Kumanov, Stephanie B Seminara
BACKGROUND: A constellation of neurodegenerative disorders exists (Gordon Holmes syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from both neurological disease (typically manifested by ataxia) and reproductive failure (idiopathic hypogonadotropic hypogonadism (IHH)). POLR3B, which encodes the second largest subunit of RNA polymerase III (pol III), and POLR3A, which forms the pol III catalytic centre, are associated with 4H leucodystrophy. METHODS: Whole exome sequencing was performed on a large cohort of subjects with IHH (n=565)...
January 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27454850/delayed-puberty-in-the-female-patient
#13
Gylynthia E Trotman
PURPOSE OF REVIEW: The purpose is to review current recommendations for the evaluation and management of delayed puberty in the female patient. RECENT FINDINGS: Kisspeptin activation has emerged as an important factor for initiation of pubertal development. Causes of delayed puberty can be considered in four main categories: constitutional delay of growth and puberty, hypergonadotropic hypogonadism, permanent hypogonadotropic hypogonadism, and transient/functional hypogonadism...
October 2016: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27214398/kisspeptin-responsiveness-signals-emergence-of-reproductive-endocrine-activity-implications-for-human-puberty
#14
Margaret F Lippincott, Yee-Ming Chan, Angela Delaney, Dianali Rivera-Morales, James P Butler, Stephanie B Seminara
CONTEXT: Some patients with idiopathic hypogonadotropic hypogonadism (IHH) undergo spontaneous activation of their hypothalamic-pituitary-gonadal axis resulting in normalization of steroidogenesis and/or gametogenesis, a phenomenon termed reversal. OBJECTIVE: To assess the responsiveness of the GnRH neuronal network to exogenous kisspeptin administration in IHH patients who have undergone reversal. PARTICIPANTS: Six men with congenital IHH and evidence for reversal...
August 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27174321/evaluation-of-basal-serum-adrenocorticotropic-hormone-and-cortisol-levels-and-their-relationship-with-nonalcoholic-fatty-liver-disease-in-male-patients-with-idiopathic-hypogonadotropic-hypogonadism
#15
Wen-Bo Wang, Fei She, Li-Fang Xie, Wen-Hua Yan, Jin-Zhi Ouyang, Bao-An Wang, Hang-Yun Ma, Li Zang, Yi-Ming Mu
BACKGROUND: Prolonged gonadal hormone deficiency in patients with idiopathic hypogonadotropic hypogonadism (IHH) may produce adverse effects on the endocrine homeostasis and metabolism. This study aimed to compare basal serum adrenocorticotropic hormone (ACTH) and cortisol levels between male IHH patients and healthy controls. Moreover, this study compared the basal hypothalamic-pituitary-adrenal (HPA) axis in patients with and without nonalcoholic fatty liver disease (NAFLD), and also evaluated the relationship between basal HPA axis and NAFLD in male IHH patients...
May 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27013679/deletion-of-vax1-from-gonadotropin-releasing-hormone-gnrh-neurons-abolishes-gnrh-expression-and-leads-to-hypogonadism-and-infertility
#16
Hanne M Hoffmann, Crystal Trang, Ping Gong, Ikuo Kimura, Erica C Pandolfi, Pamela L Mellon
UNLABELLED: Hypothalamic gonadotropin-releasing hormone (GnRH) neurons are at the apex of the hypothalamic-pituitary-gonadal axis that regulates mammalian fertility. Herein we demonstrate a critical role for the homeodomain transcription factor ventral anterior homeobox 1 (VAX1) in GnRH neuron maturation and show that Vax1 deletion from GnRH neurons leads to complete infertility in males and females. Specifically, global Vax1 knock-out embryos had normal numbers of GnRH neurons at 13 d of gestation, but no GnRH staining was detected by embryonic day 17...
March 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/26977770/a-jacob-nsmf-gene-knockout-results-in-hippocampal-dysplasia-and-impaired-bdnf-signaling-in-dendritogenesis
#17
Christina Spilker, Sven Nullmeier, Katarzyna M Grochowska, Anne Schumacher, Ioana Butnaru, Tamar Macharadze, Guilherme M Gomes, PingAn Yuanxiang, Gonca Bayraktar, Carolin Rodenstein, Carolin Geiseler, Angela Kolodziej, Jeffrey Lopez-Rojas, Dirk Montag, Frank Angenstein, Julia Bär, Wolfgang D'Hanis, Thomas Roskoden, Marina Mikhaylova, Eike Budinger, Frank W Ohl, Oliver Stork, Ana C Zenclussen, Anna Karpova, Herbert Schwegler, Michael R Kreutz
Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with anosmia or hyposmia. It has also been reported that a protein knockdown results in migration deficits of Gonadotropin-releasing hormone (GnRH) positive neurons from the olfactory bulb to the hypothalamus during early neuronal development...
March 2016: PLoS Genetics
https://www.readbyqxmd.com/read/26934719/the-zebrafish-an-emerging-animal-model-for-investigating-the-hypothalamic-regulation-of-reproduction
#18
Ivan Bassi, Valentina ANDRé, Federica Marelli, Valeria Vezzoli, Giorgio R Merlo, Anna Cariboni, Luca Persani, Yoav Gothilf, Marco Bonomi
Gonadotropin-releasing hormone (GnRH) neurons have a pivotal role in the physiological functions of hypotahlamic-pituitary-gonadal (HPG) axis. The pulsatile releasing of GnRH hormone into the hypophyseal portal circulation at the median eminence represent the first domino in the HPG cascade of events that regulate the development, fertility and aging in all vertebrates. These neurons principally originate in the olfactory placode and migrate during early embryonal stages into the hypothalamus. Alterations in developmental processes or in the releasing of GnRH hormone lead to a rare and complex disorder of the reproductive axis called congenital hypogonadotropic hypogonadism (CHH)...
June 2016: Minerva Endocrinologica
https://www.readbyqxmd.com/read/26931467/dominant-negative-kinase-domain-mutations-in-fgfr1-can-explain-the-clinical-severity-of-hartsfield-syndrome
#19
Sungkook Hong, Ping Hu, Juliana Marino, Sophia B Hufnagel, Robert J Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene A Ribeiro-Bicudo, Paul Kruszka, Erich Roessler, Maximilian Muenke
Mutations in FGFR1 have recently been associated with Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequently includes combinations of craniofacial, limb and brain abnormalities not typical for classical HPE. Unrelated clinical conditions generally without craniofacial or multi-system malformations include Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. FGFR1 is a principal cause for these less severe diseases as well. Here we demonstrate that of the nine FGFR1 mutations recently detected in our screen of over 200 HPE probands by next generation sequencing, only five distinct mutations in the kinase domain behave as dominant-negative mutations in zebrafish over-expression assays...
May 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26862482/clinical-characteristics-and-follow-up-of-5-young-chinese-males-with-gonadotropin-releasing-hormone-deficiency-caused-by-mutations-in-the-kal1-gene
#20
Juan Li, Niu Li, Yu Ding, Xiaodong Huang, Yongnian Shen, Jian Wang, Xiumin Wang
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) pertains to a group of genetic disorders consisting of anosmic hypogonadotropic hypogonadism (Kallmann syndrome, KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). KS is genetically heterogeneous. We hereby present 5 young male patients with GnRH deficiency caused by mutations in the KAL1 gene. Their ages ranged from 9 months to 16 years. They were referred to our department for an endocrine consultation for micropenis. Hormone assays showed low circulating gonadotropins and testosterone...
February 2016: Meta Gene
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