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Hypogonadotropic hypogonadism

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https://www.readbyqxmd.com/read/29228280/new-intronic-fibroblast-growth-factor-receptor-1-fgfr1-mutation-leading-to-disrupted-splicing-and-kallmann-syndrome
#1
J Känsäkoski, K Vaaralahti, T Raivio
Congenital hypogonadotropic hypogonadism (CHH), which can present with a defective sense of smell (Kallmann syndrome, KS), is a clinically and genetically heterogeneous disorder. Over 31 genes have been associated with CHH, but most of the patients still lack a molecular genetic diagnosis. Some cases may be explained by mutations that disrupt the splicing of already established CHH genes but that are unrecognized either because they are located deep in introns or are not predicted to disrupt splicing. Here we identified a patient with a previously unreported Fibroblast Growth Factor Receptor 1 (FGFR1) mutation, c...
December 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29223677/the-hypothalamus-pituitary-gonad-axis-tales-of-mice-and-men
#2
REVIEW
Athina Kaprara, Ilpo T Huhtaniemi
Reproduction is controlled by the hypothalamic - pituitary - gonadal (HPG) axis. Gonadotropin-releasing hormone (GnRH) neurons play a central role in this axis through production of GnRH, which binds to a membrane receptor on pituitary gonadotrophs and stimulates the biosynthesis and secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Multiple factors affect GnRH neuron migration, GnRH gene expression, GnRH pulse generator, GnRH secretion, GnRH receptor expression, and gonadotropin synthesis and release...
December 6, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#3
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29202173/dcc-ntn1-complex-mutations-in-patients-with-congenital-hypogonadotropic-hypogonadism-impair-gnrh-neuron-development
#4
Justine Bouilly, Andrea Messina, Georgios Papadakis, Daniele Cassatella, Cheng Xu, James S Acierno, Brooke Tata, Gerasimos Sykiotis, Sara Santini, Yisrael Sidis, Eglantine Elowe-Gruau, Franziska Phan-Hug, Michael Hauschild, Pierre-Marc Bouloux, Richard Quinton, Mariarosaria Lang-Muritano, Lucie Favre, Laura Marino, Paolo Giacobini, Andrew A Dwyer, Nicolas J Niederländer, Nelly Pitteloud
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by absent puberty and infertility due to GnRH deficiency, and is often associated with anosmia (Kallmann syndrome, KS). The genetic etiology of CHH is heterogeneous, and more than 30 genes have been implicated in approximately 50% of patients with CHH. We hypothesized that genes encoding axon-guidance proteins containing fibronectin type-III (FN3) domains (similar to ANOS1, the first gene associated with KS), are mutated in CHH...
November 30, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29201072/the-role-of-kisspeptin-in-female-reproduction
#5
REVIEW
Sareh Zeydabadi Nejad, Fahimeh Ramezani Tehrani, Azita Zadeh-Vakili
Context: Kisspeptin (KISS1), a recently discovered neuropeptide that acts upstream of gonadotropin-releasing hormone (GnRH) neurons, is critical for maturation and function of the reproductive axis. This review aimed at providing comprehensive and up-to-date information on Kisspeptin and its role in female reproduction. Evidence Acquisition: A literature review was performed using PubMed for all English language articles published between 1999 and 2016. Results: The kisspeptin system (KISS1/G protein-coupled receptor-54,GPR54) has recently been addressed as an essential gatekeeper of puberty onset and gonadotropin secretion...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29182666/gnrh-receptor-gene-mutations-in-adolescents-and-young-adults-presenting-with-signs-of-partial-gonadotropin-deficiency
#6
Johanna Hietamäki, Matti Hero, Elina Holopainen, Johanna Känsäkoski, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Päivi J Miettinen, Taneli Raivio
Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TAC3, and TACR3 mutations in nine adolescent and young adult females with clinical cues consistent with partial gonadotropin deficiency (stalled puberty, unexplained secondary amenorrhea), and describe phenotypic features and molecular genetic findings of monozygotic twin brothers with stalled puberty...
2017: PloS One
https://www.readbyqxmd.com/read/29176027/identification-of-a-novel-mutation-of-nr0b1-in-a-patient-with-x-linked-adrenal-hypoplasia-and-symptomatic-treatment
#7
Jing Yang, Yuncheng Lv, Ye Zhou, Xinhua Xiao
BACKGROUND: X-linked congenital adrenal hypoplasia (X-linked AHC) is characterized by acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty. Mutations in NR0B1, the gene located on Xp21.3 and encoding an orphan nuclear receptor named DAX1, are responsible for this disease. METHODS: The entire coding region of the NR0B1 gene of a 14-year-old X-linked AHC proband as well as his family members was sequenced...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29166371/effect-of-iron-overload-on-impaired-fertility-in-male-patients-with-transfusion-dependent-beta-thalassemia
#8
Mei-Jou Chen, StevenShinn-Forng Peng, Meng-Yao Lu, Yung-Li Yang, Shiann-Tarng Jou, Hsiu-Hao Chang, Shee-Uan Chen, Dong-Tsamn Lin, Kai-Hsin Lin
BACKGROUND: To investigate the fertility of male patients with transfusion-dependent beta-thalassemia, and use MRI as a novel method to assess the iron overload status of testis in such patients. METHODS: Twenty-one male patients with transfusion-dependent beta-thalassemia and 5 normal male controls enrolled in this study. Hormonal profiles, iron levels, MRI testicular dimension, MRI T2 values, parameters for sperm quality, sperm DNA fragmentation (SDF) of participants were measured...
November 22, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29165578/clues-for-polygenic-inheritance-of-pituitary-stalk-interruption-syndrome-by-exome-sequencing-in-20-patients
#9
Nitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, Lidija Kovacic, Floor A Duijkers, Saskia M Maas, Eric Fliers, A S Paul van Trotsenburg, Raoul C Hennekam
Context: Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, interrupted/absent pituitary stalk, and an ectopic posterior pituitary lobe. Mendelian forms of PSIS are detected infrequently (< 5%), and a polygenic etiology has been suggested. GLI2 variants have been reported in a relatively high frequency in PSIS. Objective: To provide further evidence for a non-Mendelian, polygenic etiology of PSIS. Methods: Exome sequencing (trio approach) in 20 patients with isolated PSIS...
November 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29160040/fgfr1-disruption-identified-by-whole-genome-sequencing-in-a-male-with-a-complex-chromosomal-rearrangement-and-hypogonadotropic-hypogonadism
#10
Kaori Yamoto, Shingo Okamoto, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
No abstract text is available yet for this article.
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29157487/contr%C3%A3-le-de-l%C3%A2-axe-gonadotrope-nouveaux-aspects-physiologiques-et-th%C3%A3-rapeutiques-control-of-the-gonadotrope-axis-new-physiologic-and-therapeutic-aspects
#11
L Maione, S Christin-Maître, P Chanson, J Young
The endocrine and exocrine functions of the gonads are controlled by the gonadotrope axis, whose master regulator is the hypothalamic decapeptide GnRH. The Kisspeptin/Neurokinin B (Kp/NkB) neuronendocrine system is the main physiologic regulator of GnRH neurons. The Kp/NkB system is currently considered the key mediator for the hypothalamic negative feedback exerted by sex steroids and prolactin, as well as by various metabolic signals. Intrinsic alterations or regulatory abnormalities of Kp/NkB system lead to various gonadotrope axis puberty and fertility dysfunctions...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#12
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29150303/oxytocin-intranasal-administration-as-a-new-hope-for-hypogonadotropic-hypogonadism-patients
#13
Mohammad Saied Salehi, Sareh Pandamooz, Homayoun Khazali
Hypogonadotropic hypogonadism (HH) is a form of hypogonadism which also known as secondary or central hypogonadism. Congenital HH can occur due to defect in gonadotropin releasing hormone (GnRH) neurons, upstream regulators of GnRH neurons or pituitary gonadotropic cells. Testosterone or gonadotropins therapy are widely used to treat HH patients, however both have undesirable effects and GnRH treatment for HH patients is time and cost consuming. Direct delivery of therapeutics to the brain via the nasal route is located in the center of attention during the last decade and trial application of intranasal oxytocin as a method of enhancing social interactions are reported...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29146774/split-hand-foot-malformation-a-potential-clue-to-underlying-fgfr1-mutation-in-patients-with-isolated-congenital-hypogonadotropic-hypogonadism
#14
Partha Pratim Chakraborty, Rana Bhattacharjee, Satinath Mukhopadhyay, Subhankar Chowdhury
No abstract text is available yet for this article.
November 16, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29145714/clinical-and-biochemical-correlates-of-male-hypogonadism-in-type-2-diabetes
#15
A Herrero, M Marcos, P Galindo, J M Miralles, J J Corrales
The origin of hypogonadism, a condition including both symptoms and biochemical criteria of androgen deficiency, in type 2 diabetes is poorly known. In a cross-sectional study of 267 unselected patients, we analyzed the potential correlation of several clinical and biochemical variables as well as chronic micro- and macrovascular diabetic complications with hypogonadism. Hypogonadism was present in 46 patients (17.2%) using a cutoff of total testosterone 10.4 nmol/L and in 31 (11.6%) with a cutoff of 8 nmol/L...
November 16, 2017: Andrology
https://www.readbyqxmd.com/read/29144511/evaluating-charge-syndrome-in-congenital-hypogonadotropic-hypogonadism-patients-harboring-chd7-variants
#16
Cheng Xu, Daniele Cassatella, Almer M van der Sloot, Richard Quinton, Michael Hauschild, Christian De Geyter, Christa Flück, Katrin Feller, Deborah Bartholdi, Attila Nemeth, Irene Halperin, Sandra Pekic Djurdjevic, Philippe Maeder, Georgios Papadakis, Andrew A Dwyer, Laura Marino, Lucie Favre, Duarte Pignatelli, Nicolas J Niederländer, James Acierno, Nelly Pitteloud
PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically examined.MethodsRare sequencing variants (RSVs) in CHD7 were identified through exome sequencing in 116 CHH probands, and were interpreted according to American College of Medical Genetics and Genomics guidelines...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29136719/-congenital-adrenal-hypoplasia-combined-with-hypogonadotropic-hypogonadism-dued-to-new-dax-1-mutations-two-cases-report
#17
J H Xie, C Y Li, G Yuan
No abstract text is available yet for this article.
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29123501/gonadotropin-releasing-hormone-gnrh-receptor-structure-and-gnrh-binding
#18
REVIEW
Colleen A Flanagan, Ashmeetha Manilall
Gonadotropin-releasing hormone (GnRH) regulates reproduction. The human GnRH receptor lacks a cytoplasmic carboxy-terminal tail but has amino acid sequence motifs characteristic of rhodopsin-like, class A, G protein-coupled receptors (GPCRs). This review will consider how recent descriptions of X-ray crystallographic structures of GPCRs in inactive and active conformations may contribute to understanding GnRH receptor structure, mechanism of activation and ligand binding. The structures confirmed that ligands bind to variable extracellular surfaces, whereas the seven membrane-spanning α-helices convey the activation signal to the cytoplasmic receptor surface, which binds and activates heterotrimeric G proteins...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29120657/-anabolic-steroid-induced-hypogonadism-in-men-overview-and-case-report
#19
Luboslav Stárka, Michaela Dušková, Lucie Kolátorová, Oldřich Lapčík
An important potential consequence of the anabolic steroid misuse is hypogonadotropic hypogonadism due to the inhibition of pituitary secretion of gonadotropins. By the symptoms as testicular atrophy, spermatogenic and fertility disturbances or dysfunction in sexual life, the anabolic steroids induced hypogonadism (ASIH) could be differentiated from organic hypogonadotropic hypogonadism only with difficulty unless the misuse is reported by the user. When diagnosed, the crucial step in the therapy is the stop of anabolic use...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#20
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
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