851 results match your criteria: "Gonadotropin-Releasing Hormone Deficiency in Adults"
Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible gene candidates have identified mutations associated with inherited GnRH deficiency, but the small number of affected families and limited success in validating candidates have impeded genetic diagnoses for most patients. Using a combination of exome sequencing and computational modeling, we have identified a shared point mutation in semaphorin 3E (SEMA3E) in 2 brothers with Kallmann syndrome (KS), which causes inherited GnRH deficiency.
View Article and Find Full Text PDFObjective: Gonadotropin-releasing hormone analogs (GnRHa) are standard of care for the treatment of central precocious puberty (CPP). GnRHa have also been prescribed in other clinical settings with the hope of increasing adult stature, although evidence to support this practice is lacking. The degree to which GnRHa are being prescribed for indications other than CPP in routine clinical care has not been described.
View Article and Find Full Text PDFAsian J Androl
February 2016
Department of Endocrinology, Peking Union Medical College Hospital, Key Laboratory of Endocrinology, Ministry of Health, Beijing 100730, China.
Although idiopathic hypogonadotropic hypogonadism (IHH) has traditionally been viewed as a life-long disease caused by a deficiency of gonadotropin-releasing hormone neurons, a portion of patients may gradually regain normal reproductive axis function during hormonal replacement therapy. The predictive factors for potential IHH reversal are largely unknown. The aim of our study was to investigate the incidence and clinical features of IHH male patients who had reversed reproductive axis function.
View Article and Find Full Text PDFBMJ Case Rep
December 2014
Department of Radiodiagnosis, CMIIL-SCB Medical MRI Centre, Cuttack, Odisha, India.
Kallmann's syndrome is a neuronal migration disorder characterised by anosmia/hyposmia and hypogonadotropic hypogonadism. We present a case of a 21-year-old man who was unable to sense smell since birth and who displayed non-development of secondary sexual characteristics for the past 10 years. Blood investigations showed low basal levels of serum follicle stimulating hormone (FSH), serum luteinising hormone (LH) and serum testosterone.
View Article and Find Full Text PDFActa Physiol (Oxf)
March 2015
The House of Sport, Team Danmark, Broendby, Denmark; Institute of Sport Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark.
Aim: To investigate how suppression of endogenous testosterone during an 8-week strength training period influences the activity of satellite cells and myonuclei.
Methods: Twenty-two moderately trained young men participated in this randomized, placebo-controlled, and double-blinded intervention study. The participants were randomized to treatment with a GnRH analogue, goserelin (n = 12), which suppresses testosterone or placebo (n = 10) for 12 weeks.
PLoS Biol
September 2014
Inserm, U1141, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France; AP-HP, Laboratoire de Biochimie, Hôpital Robert Debré, Paris, France.
Characterization of the genetic defects causing gonadotropic deficiency has made a major contribution to elucidation of the fundamental role of Kisspeptins and Neurokinin B in puberty onset and reproduction. The absence of puberty may also reveal neurodevelopmental disorders caused by molecular defects in various cellular pathways. Investigations of these neurodevelopmental disorders may provide information about the neuronal processes controlling puberty onset and reproductive capacity.
View Article and Find Full Text PDFAm J Hum Genet
September 2014
Department of Biotechnology, Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, 01330 Adana, Turkey. Electronic address:
Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS.
View Article and Find Full Text PDFDev Neurobiol
March 2015
Division of Medical Gene Technology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary; Laboratory of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary.
Gamma-aminobutyric acid (GABA) has a dual role as an inhibitory neurotransmitter in the adult central nervous system (CNS) and as a signaling molecule exerting largely excitatory actions during development. The rate-limiting step of GABA synthesis is catalyzed by two glutamic acid decarboxylase isoforms GAD65 and GAD67 coexpressed in the GABAergic neurons of the CNS. Here we report that the two GADs show virtually nonoverlapping expression patterns consistent with distinct roles in the developing peripheral olfactory system.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
October 2014
Division of Pediatric Endocrinology (A.K.T., E.M., F.G., N.O.M., B.Y.) and Department of Neurology (A.F.K.), Faculty of Medicine, and Department of Biotechnology (A.K.T., L.D.K., M.B.K.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Division of Neuroscience (A.L., G.A.D., S.R.O.), Oregon National Primate Research Centre, Beaverton, Oregon 97006; Oregon Institute of Occupational Health Sciences (D.K., M.C.), Oregon Health and Science University, Portland, Oregon 97239; Laboratories for Integrative Neuroscience and Endocrinology (C.A.M.), School of Clinical Sciences, University of Bristol, Bristol, United Kingdom BS1 3NY; Department of Human Genetics (B.C.H.), Nijmegen Medical Centre, Radboud University, Nijmegen, The Netherlands 6525 GA; Departments of Endocrinology and Metabolism (M.G.) and Pediatric Endocrinology and Metabolism (E.D.P., E.E.), School of Medicine, Uludag University, Bursa, Turkey 16110; and Department of Cell Biology, Physiology, and Immunology (J.M.C.), University of Cordoba, Cordoba, Spain 14071.
Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.
Objective: We aimed to provide insight into the disease mechanism in GHS.
Cancer Biol Ther
September 2014
Department of Pathology and Laboratory Medicine; University of Calgary and Calgary Laboratory Services; Calgary, AB Canada; Departments of Oncology, Biochemistry and Molecular Biology; Calgary, AB Canada; Southern Alberta Cancer Institute and Tom Baker Cancer Center; Calgary, AB Canada; The Prostate Cancer Center; Calgary, AB Canada.
ERG and androgen receptor (AR) are known to function cooperatively in prostate cancer (PCa) progression. However, the prognostic value of combined ERG and AR expression and potential pathways are not well characterized. We assessed ERG and AR protein expression by immunohistochemistry in a cohort of 312 men with PCa diagnosed by transurethral resection of the prostate (TURP).
View Article and Find Full Text PDFBackground: A need remains for new therapeutic approaches for men with advanced prostate cancer, particularly earlier in the disease course.
Objective: To assess the ability of an oral selective estrogen receptor α agonist (GTx-758) to lower testosterone concentrations compared with leuprolide while minimizing estrogen deficiency-related side effects of androgen-deprivation therapy.
Design, Setting, And Participants: Hormone-naive advanced prostate cancer patients were randomized to oral GTx-758 1000 mg/d, 2000 mg/d, or leuprolide depot.
Minerva Endocrinol
September 2014
Biomedical Sciences, School of Sport Exercise and Health Sciences Loughborough University, Loughborough, UK -
Premature ovarian insufficiency (POI) involves loss of ovarian function before age 40. POI has been associated with neurological dysfunction and an increased risk of dementia, perhaps due to depletion in estrogen levels. The present review discusses the effects of POI caused by genetic disorder, natural premature menopause, surgical menopause, breast cancer treatment and gonadotropin-releasing hormone (GnRH) agonist treatment.
View Article and Find Full Text PDFThe neuropeptide kisspeptin regulates reproduction by stimulating gonadotropin-releasing hormone (GnRH) neurons via the kisspeptin receptor KISS1R. In addition to GnRH neurons, KISS1R is expressed in other brain areas and peripheral tissues, which suggests that kisspeptin has additional functions beyond reproduction. Here, we studied the energetic and metabolic phenotype in mice lacking kisspeptin signaling (Kiss1r KO mice).
View Article and Find Full Text PDFMinerva Ginecol
April 2014
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology Cooper Medical School of Rowan University, Camden, NJ, USA -
Premature ovarian insufficiency, defined as amenorrhea with estrogen deficiency in a woman younger than 40 associated with a serum follicle stimulating hormone (FSH) >35 mIU/mL, can be temporarily reversed with ovulation achieved resulting in live delivered pregnancies. Though this may occur spontaneously the frequency of ovulation can be considerably increased by various techniques of lowering the elevated serum FSH level and thus up-regulate down-regulated FSH receptors in the granulosa-theca cells. This can be accomplished by either suppressing FSH release from the pituitary by negative feedback through high dose estrogen or by suppressing FSH production by inhibiting the gonadotropin releasing hormone (GnRH) by either using GnRH agonists or antagonists.
View Article and Find Full Text PDFThe transition to puberty and adult fertility both require a minimum level of energy availability. The adipocyte-derived hormone leptin signals the long-term status of peripheral energy stores and serves as a key metabolic messenger to the neuroendocrine reproductive axis. Humans and mice lacking leptin or its receptor fail to complete puberty and are infertile.
View Article and Find Full Text PDFIndian J Pediatr
May 2015
Department of Growth and Pediatric Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, India.
Objective: To ascertain the impact of pituitary size as judged by Magnetic Resonance Imaging (MRI), on response to Growth Hormone (GH) therapy in GH deficient children.
Methods: Thirty nine children (9.1 ± 2.
Am J Physiol Endocrinol Metab
June 2014
Division of Reproductive and Developmental Sciences, Oregon National Primate Research Center, Beaverton, Oregon; Department of Obstetrics & Gynecology, Oregon Health & Science University, Portland, Oregon; Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania;
Many patients with hyperandrogenemia are overweight or obese, which exacerbates morbidities associated with polycystic ovary syndrome (PCOS). To examine the ability of testosterone (T) to generate PCOS-like symptoms, monkeys received T or cholesterol (control) implants (n = 6/group) beginning prepubertally. As previously reported, T-treated animals had increased neuroendocrine drive to the reproductive axis [increased luteinizing hormone (LH) pulse frequency] at 5 yr, without remarkable changes in ovarian or metabolic features.
View Article and Find Full Text PDFOverexpression of CYP19A1 encoding aromatase results in a rare genetic disorder referred to as aromatase excess syndrome (AEXS). Male patients with AEXS manifest pre- or peri-pubertal onset gynecomastia, gonadotropin deficiency, and advanced bone age, while female patients are mostly asymptomatic. To date, 30 male patients with molecularly confirmed AEXS have been reported.
View Article and Find Full Text PDFHum Exp Toxicol
December 2014
Department of Pathology, School of Medicine, Goztepe Research and Training Hospital, Istanbul Medeniyet University, Istanbul, Turkey.
Drug-related skin disorders may occur in many different ways. Despite pigmentary changes being less important for morbidity, these changes precipitate depressed mood and reduce self-confidence. Testosterone is a steroid hormone from the androgen group and primarily used for the treatment of hypogonadism in males.
View Article and Find Full Text PDFBackground: Prostate-specific antigen (PSA) is used as an outcome measure for relapsed disease in prostate cancer. Nonetheless, there are considerable concerns about its indiscriminate use as a surrogate endpoint for cell growth or survival. We hypothesized that treatment with a luteinizing hormone releasing hormone (LHRH) analog would decrease PSA levels even in the absence of malignant disease.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
March 2014
Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine (R.B., J.E.H., A.A.D., N.P., W.F.C.), Massachusetts General Hospital, Boston, Massachusetts 02114; Division of Sleep Medicine (D.A.C., E.B.K., C.A.C.), Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115; and Department of Endocrinology-Hospital São João (D.P.), Department of Experimental Biology-Faculty of Medicine (D.P.), and Institute of Molecular Pathology and Immunology at the University of Porto (IPATIMUP) (D.P.), 4200-319 Porto, Portugal.
Context: Loss of prokineticin 2 (PROK2) signaling in mice disrupts circadian rhythms, but the role of PROK2 signaling in the regulation of circadian rhythms in humans is undetermined.
Objective: The aim of the study was to examine the circadian rhythms of humans with a complete loss-of-function PROK2 mutation using an inpatient constant routine (CR) protocol.
Design And Setting: We conducted a case study in an academic medical center.
Reprod Biomed Online
February 2014
Clinical Institute for Medical Biochemistry and Laboratory Medicine, Merkur Teaching Hospital, 10 000 Zagreb, Croatia. Electronic address:
Baseline dehydroepiandrostendione sulphate (DHEAS) has been demonstrated to discriminate between young, expected poor responders with favourable clinical pregnancy prospects after IVF treatment and their counterparts with significantly lower pregnancy chances. This study investigated DHEAS ability to predict live birth before starting the first gonadotrophin-releasing hormone (GnRH) antagonist ovarian stimulation for IVF/intracytoplasmic sperm injection in young women (⩽37years) with low serum AMH (<6.5pmol/l).
View Article and Find Full Text PDFBrain
January 2014
1 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany.
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. In five of seven Boucher-Neuhäuser syndrome/Gordon Holmes syndrome families, we identified nine rare conserved and damaging mutations by applying whole exome sequencing.
View Article and Find Full Text PDFHum Mol Genet
February 2014
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China.
Gordon Holmes syndrome (GHS) is a rare Mendelian neurodegenerative disorder characterized by ataxia and hypogonadism. Recently, it was suggested that disordered ubiquitination underlies GHS though the discovery of exome mutations in the E3 ligase RNF216 and deubiquitinase OTUD4. We performed exome sequencing in a family with two of three siblings afflicted with ataxia and hypogonadism and identified a homozygous mutation in STUB1 (NM_005861) c.
View Article and Find Full Text PDFNeuroendocrinology
August 2014
Laboratorio de Neuroendocrinología, Instituto de Biología y Medicina Experimental (IBYME-CONICET), Buenos Aires, Argentina.
Background/aims: Adult mice lacking functional GABAB receptors (GABAB1KO) show altered Gnrh1 and Gad1 expressions in the preoptic area-anterior hypothalamus (POA-AH) and females display disruption of cyclicity and fertility. Here we addressed whether sexual differentiation of the brain and the proper wiring of the GnRH and kisspeptin systems were already disturbed in postnatal day 4 (PND4) GABAB1KO mice.
Methods: PND4 wild-type (WT) and GABAB1KO mice of both sexes were sacrificed; tissues were collected to determine mRNA expression (qPCR), amino acids (HPLC), and hormones (RIA and/or IHC).