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Idiopathic Hypogonadotropic hypogonadism

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...
20, 2017: ACS Chemical Biology
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
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...
November 23, 2016: Minerva Endocrinologica
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 (CC) treatment in patients with LOH and a review of the literature. DESIGN: A retrospective case series. PATIENTS AND MEASUREMENTS: Eighteen male patients with hypogonadotropic hypogonadism, roughly according to the EMAS criteria for LOH, attended at an academic hospital outpatient clinic...
November 16, 2016: Endocrine Practice
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
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
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
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
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
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
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
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
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
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
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
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
Moushumi Lodh, Rajarshi Mukhopadhyay
We present three cases who presented to our Endocrinology OPD a few days apart with the common complaints of no or minimal development of secondary sexual characteristics. Although they had similar problems, investigations revealed a spectrum of different clinical, biochemical and genetic abnormalities. All the patients had otherwise normal anterior pituitary hormone secretion and sellar anatomy. One had a short Y chromosome, one was a Klinefelter syndrome and the other had no chromosomal abnormality. These findings along with absence of any detectable abnormality on pituitary imaging helped us diagnose these cases as Idiopathic hypogonadotropic hypogonadism...
March 2016: Indian Journal of Clinical Biochemistry: IJCB
Zhaoxiang Liu, Jiangfeng Mao, Xueyan Wu, Min Nie, Bingkun Huang, Hongli Xu, Xi Wang, Junjie Zheng
OBJECTIVE: To investigate the therapeutic effect of pulsatile GnRH (gonadorelin) pump on female patients with idiopathic hypogonadotropic hypogonadism (IHH). METHODS: In this retrospective study, five female IHH patients were recruited. Patients were treated with pulsatile gonadorelin (10 µg per 90 min) via a pump for at least 12 weeks. Serum gonadotropins and sex steroid levels were measured, and menses were recorded. RESULTS: After one-week treatment, luteinizing hormone (LH) level increased from (2...
November 10, 2015: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Jian Song, Jie Li, Hua-die Liu, Wei Liu, Yong Feng, Xiao-Tao Zhou, Jia-Da Li
Mutations in Prokineticin receptor 2 (PKR2), a G-protein-coupled receptor, have been identified in patients with Kallmann syndrome and/or idiopathic hypogonadotropic hypogonadism, characterized by delayed puberty and infertility. In this study, we performed yeast two-hybrid screening by using PKR2 C-terminus (amino acids 333-384) as a bait, and identified Snapin as a novel interaction partner for PKR2. The interaction of Snapin and PKR2 was confirmed in GST pull-down and co-immunoprecipitation studies. We further demonstrated that two α-helix domains in Snapin are required for the interaction...
January 15, 2016: Biochemical and Biophysical Research Communications
Sasha Howard, Leo Dunkel
Male delayed puberty is common, affecting up to 3% of the population. Management of patients with pubertal delay is dependent on the underlying cause. The main differential diagnoses of delayed puberty in males include constitutional delay of growth and puberty (CDGP), idiopathic hypogonadotropic hypogonadism and hypergonadotropic hypogonadism. Treatment of isolated CDGP involves expectant observation or short courses of low-dose sex steroid supplementation. More complex and involved management is required in males with hypogonadism to achieve both development of secondary sexual characteristics and to maximise the potential for fertility...
2016: Endocrine Development
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