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https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#1
Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27879963/hypogonadism-and-non-alcoholic-fatty-liver-disease
#2
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
https://www.readbyqxmd.com/read/27867878/prevalence-of-hypothalamo-pituitary-dysfunction-in-patients-of-traumatic-brain-injury
#3
K V S Hari Kumar, M N Swamy, M A Khan
BACKGROUND: Traumatic brain injury (TBI) is common in young soldiers of armed forces leading to significant morbidity and mortality. We studied the prevalence of hypopituitarism following TBI and its association with trauma severity. MATERIALS AND METHODS: We conducted a 12-month prospective study of 56 TBI patients for the presence of hormonal dysfunction. Hormonal parameters were estimated during the early phase (0-10 days posttraumatically) and after 6 and 12 months...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27866050/boucher-neuh%C3%A3-user-syndrome-a-rare-cause-of-inherited-hypogonadotropic-hypogonadism-a-case-of-two-adult-siblings-with-two-novel-mutations-in-pnpla6
#4
Jakob H Langdahl, Anja L Frederiksen, Nina Nguyen, Klaus Brusgaard, Claus B Juhl
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27863011/congenital-anosmia-our-experience-of-eleven-patients-with-aplasia-or-hypoplasia-of-the-olfactory-tract
#5
Jason Powell, Ivan Zammit-Maempel, Sean Carrie
Anosmia is present in approximately 1% of the population and can have a significant impact on quality of life (1) . In contrast to acquired anosmia, congenital anosmia is a relatively rare condition characterized by a complete lack of olfactory perception and the aplasia or hypoplasia of the olfactory bulb. Kallmann syndrome (congenital hypogonadotropic hypogonadism and anosmia) is the best known condition assoicated with congenital anosmia (2,3) . Kallmann Syndrome has a prevalence of around 1 in 8000, and is five times more common in men than women (2,3) ...
November 14, 2016: Clinical Otolaryngology
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
#6
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
https://www.readbyqxmd.com/read/27811940/the-endocrine-manifestations-of-anorexia-nervosa-mechanisms-and-management
#7
REVIEW
Melanie Schorr, Karen K Miller
Anorexia nervosa is a psychiatric disorder characterized by altered body image, persistent food restriction and low body weight, and is associated with global endocrine dysregulation in both adolescent girls and women. Dysfunction of the hypothalamic-pituitary axis includes hypogonadotropic hypogonadism with relative oestrogen and androgen deficiency, growth hormone resistance, hypercortisolaemia, non-thyroidal illness syndrome, hyponatraemia and hypooxytocinaemia. Serum levels of leptin, an anorexigenic adipokine, are suppressed and levels of ghrelin, an orexigenic gut peptide, are elevated in women with anorexia nervosa; however, levels of peptide YY, an anorexigenic gut peptide, are paradoxically elevated...
November 4, 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27809804/prevalence-of-testosterone-deficiency-in-hiv-infected-men-under-antiretroviral-therapy
#8
Ana Rita Gomes, Pedro Souteiro, Carolina Germana Silva, Bernardo Sousa-Pinto, Francisco Almeida, António Sarmento, Davide Carvalho, Paula Freitas
BACKGROUND: The prevalence of hypogonadism in HIV-infected patients is still a matter of debate as there is no standardized consensual diagnostic method. In addition, the etiology and endocrine/metabolic implications of hypogonadism in this population remain controversial. This study aims to determine the prevalence of testosterone deficiency in a single-site hospital and to evaluate its association with potential risk factors, lipodystrophy, metabolic syndrome, and cardiovascular risk...
November 3, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27790375/novel-heterozygous-mutation-in-the-extracellular-domain-of-fgfr1-associated-with-hartsfield-syndrome
#9
Masaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, Nao Shibata, Hiroko Yagi, Ryuji Fukuzawa, Tomonobu Hasegawa
Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of FGFR1...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27768007/the-effectiveness-of-zinc-supplementation-in-men-with-isolated-hypogonadotropic-hypogonadism
#10
Yan-Ling Liu, Man-Na Zhang, Guo-Yu Tong, Shou-Yue Sun, Yan-Hua Zhu, Ying Cao, Jie Zhang, Hong Huang, Ben Niu, Hong Li, Qing-Hua Guo, Yan Gao, Da-Long Zhu, Xiao-Ying Li
A multicenter, open-label, randomized, controlled superiority trial with 18 months of follow-up was conducted to investigate whether oral zinc supplementation could further promote spermatogenesis in males with isolated hypogonadotropic hypogonadism (IHH) receiving sequential purified urinary follicular-stimulating hormone/human chorionic gonadotropin (uFSH/hCG) replacement. Sixty-seven Chinese male IHH patients were recruited from the Departments of Endocrinology in eight tertiary hospitals and randomly allocated into the sequential uFSH/hCG group (Group A, n = 34) or the sequential uFSH plus zinc supplementation group (Group B, n = 33)...
October 21, 2016: Asian Journal of Andrology
https://www.readbyqxmd.com/read/27762491/resolution-of-non-alcoholic-steatohepatitis-after-growth-hormone-replacement-in-a-pediatric-liver-transplant-patient-with-panhypopituitarism
#11
Thomas Gilliland, Sylvie Dufour, Gerald I Shulman, Kitt Falk Petersen, Sukru H Emre
NAFLD is a common condition linked to obesity, type 2 diabetes, and metabolic syndrome. Simple hepatic steatosis is a risk factor for inflammatory reactions in the liver (NASH), which may lead to cirrhosis. While the mechanism is unclear, NAFLD and NASH are associated with panhypopituitarism, which in the pediatric population often results from craniopharyngioma or pituitary adenoma and the sequelae of treatment, causing hypothyroidism, adrenal insufficiency, hypogonadotropic hypogonadism, and GH deficiency...
December 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27725831/changes-in-testosterone-levels-and-sex-hormone-binding-globulin-levels-in-extremely-obese-men-after-bariatric-surgery
#12
Patchaya Boonchaya-Anant, Nitchakarn Laichuthai, Preaw Suwannasrisuk, Natnicha Houngngam, Suthep Udomsawaengsup, Thiti Snabboon
Objective. Obesity is a risk factor for hypogonadotropic hypogonadism in men. Weight loss has been shown to improve hypogonadism in obese men. This study evaluated the early changes in sex hormones profile after bariatric surgery. Methods. This is a prospective study including 29 morbidly obese men. Main outcomes were changes in serum levels of total testosterone (TT), free testosterone (cFT), SHBG, estradiol, adiponectin, and leptin at 1 and 6 months after surgery. Results. The mean age of patients was 31 ± 8 years and the mean BMI was 56...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27697201/clinical-applications-of-gonadotropins-in-the-male
#13
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/27671168/pituitary-function-within-the-first-year-after-traumatic-brain-injury-or-subarachnoid-haemorrhage
#14
A Tölli, J Borg, B-M Bellander, F Johansson, C Höybye
PURPOSE: Reports on long-term variations in pituitary function after traumatic brain injury (TBI) and subarachnoid haemorrhage (SAH) diverge. The aim of the current study was to evaluate the prevalence and changes in pituitary function during the first year after moderate and severe TBI and SAH and to explore the relation between pituitary function and injury variables. METHODS: Adults with moderate and severe TBI or SAH were evaluated at 10 days, 3, 6 and 12 months post-injury/illness...
September 26, 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27648561/nr0b1-frameshift-mutation-in-a-boy-with-idiopathic-central-precocious-puberty
#15
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/27647650/-andrologic-consequences-of-chronic-renal-failure-state-of-the-art-for-the-yearly-scientific-report-of-the-french-national-association-of-urology
#16
Y Neuzillet, R Thuret, F Kleinclauss, M-O Timsit
OBJECTIVE: To describe the state of the art of current knowledge regarding gonadal consequences of end-stage chronic kidney disease (CKD) and renal transplantation. MATERIAL AND METHOD: A systematic review of the literature search was performed from the databases Medline (NLM, Pubmed) and Embase, focused on the following keywords: "chronic kidney disease"; "chronic renal failure"; "hypogonadism"; "kidney transplantation"; "testicular dysfunction"; "testosterone"...
September 16, 2016: Progrès en Urologie
https://www.readbyqxmd.com/read/27647266/adherence-to-treatment-in-men-with-hypogonadotropic-hypogonadism
#17
Andrew A Dwyer, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin
OBJECTIVE: Men with congenital hypogonadotropic hypogonadism (CHH) typically require lifelong hormonal therapy and discontinuing treatment can have negative health consequences. Little is known about adherence to treatment or the psychosocial impact of CHH. DESIGN: A sequential, multiple methods approach was used. A quantitative online survey assessed adherence to treatment, depressive symptoms, and illness perceptions. Subsequently, qualitative focus groups explored patient-reported factors for adherence...
September 20, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27646495/prospective-study-of-hypothalamo-hypophyseal-dysfunction-in-children-and-adolescents-following-traumatic-brain-injury
#18
David Krahulik, Darina Aleksijevic, Vratislav Smolka, Eva Klaskova, Petra Venhacova, Miroslav Vaverka, Vladimir Mihal, Jirina Zapletalova
BACKGROUND AND AIMS: Retrospective studies of TBI have found a neuroendocrine dysfunction following traumatic brain injury in 23 to 60% of adults and 15 to 21% of children. Our aims were to determine the prevalence of hypothalamo-hypophyseal dysfunction in children following brain injury, assess its relationship to the type of injury and the course of the acute post-traumatic phase. PATIENTS AND METHODS: Body development (growth, pubertal development, and skeletal maturity) were evaluated in 58 patients (21 girls) after a brain injury rated 3 to 12 on the Glasgow Coma Scale (GCS)...
September 19, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/27618599/hypopituitarism-and-goitre-as-endocrine-manifestation-of-langerhans-cell-histiocytosis-lch-case-report
#19
Elzbieta Skowronska-Jozwiak, Stanislaw Sporny, Joanna Szymanska-Duda, Dominika Baranowska, Andrzej Lewinski
Langerhans cell histiocytosis (LCH) in adults is a rare disorder of unknown etiology characterized by monoclonal proliferation of Langerhans cells. It belongs to dendritic cell disorders and occurs in 1-2 adults per million. The most common endocrine manifestation of classical LCH is associated with the posterior pituitary, with clinical symptoms of diabetes insipidus. Less than 80 reported cases of LCH involving the thyroid gland have been published so far. We present the case of a 39 years old woman with 10 years history of diabetes insipidus and secondary amenorrhoea, which appeared after second delivery...
July 16, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27616469/kisspeptin-levels-in-idiopathic-hypogonadotropic-hypogonadism-diagnosed-male-patients-and-its-relation-with-glucose-insulin-dynamic
#20
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)...
September 10, 2016: Gynecological Endocrinology
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