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    679 results match your criteria Gonadotropin-Releasing Hormone Deficiency in Adults

    1 OF 14

    Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
    Metabolism 2017 Nov 3. Epub 2017 Nov 3.
    University of Patras Medical School, University Hospital, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, Rion, Patras, Achaia, Greece.
    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. Read More

    Acute Testosterone Deficiency Alters Adipose Tissue Fatty Acid Storage.
    J Clin Endocrinol Metab 2017 Aug;102(8):3056-3064
    Endocrine Research Unit, Mayo Clinic, Rochester, Minnesota 55905.
    Context: Although the long-term effects of testosterone on adipose tissue lipid metabolism in men have been defined, the short-term regulation of these effects is not well understood.

    Objective: We examined the effects of acute testosterone withdrawal on subcutaneous abdominal and femoral adipose tissue fatty acid (FA) storage and cellular mechanisms.

    Design: This was a prospective, randomized trial. Read More

    Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions.
    Epilepsia 2017 06;58 Suppl 2:72-76
    Department of Functional Neurosurgery, Assistance Publique Hôpitaux de Marseille, La Timone Hospital, Aix-Marseille University, Marseille, France.
    Gamma Knife radiosurgery (GK) is an effective treatment for hypothalamic hamartoma. No precise data are available on the risk of endocrine side effects of this treatment. In this study, 34 patients with hypothalamic hamartoma (HH) were followed prospectively at the Department of Endocrinology, La Timone Hospital, Marseille, France, for a mean follow-up of >2 years (mean ± standard deviation [SD] 3. Read More

    Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male.
    BMJ Case Rep 2017 Jun 5;2017. Epub 2017 Jun 5.
    Department of Endocrinology, Aga Khan University Hospital, Karachi, Pakistan.
    A 34-year-old male presented to the endocrinology clinic with the complaint of the absence of facial, axillary and pubic hairs. Further history revealed absent ejaculations and decreased early morning erections. The patient had no history of headaches, visual problems or anosmia. Read More

    Pulsatile GnRH Therapy May Restore Hypothalamus-Pituitary-Testis Axis Function in Patients With Congenital Combined Pituitary Hormone Deficiency: A Prospective, Self-Controlled Trial.
    J Clin Endocrinol Metab 2017 Jul;102(7):2291-2300
    Department of Endocrinology, Peking Union Medical College Hospital, Key Laboratory of Endocrinology, Ministry of Health, Beijing 100730, China.
    Context: The effectiveness of pulsatile gonadotropin-releasing hormone (GnRH) therapy in patients with congenital combined pituitary hormone deficiency (CCPHD) has not been investigated because of the limited number of patients, as well as these patients' presumed pituitary hypoplasia, poor gonadotrophic cell reserve, and impaired gonadotrophic response to GnRH.

    Objective: To assess the pituitary response to pulsatile GnRH therapy in men with CCPHD.

    Design: Prospective, self-controlled, 3-month clinical trial. Read More

    Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
    Hum Mol Genet 2017 06;26(11):2006-2017
    Inserm UMRS1120, Department of Neuroscience, Pasteur Institute, 75015 Paris, France.
    The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Read More

    STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
    Orphanet J Rare Dis 2017 02 13;12(1):31. Epub 2017 Feb 13.
    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.
    Background: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome.

    Methods: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations. Read More

    Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.
    JIMD Rep 2017 4;36:79-84. Epub 2017 Feb 4.
    Division of Endocrinology, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada.
    Background: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles. We describe hypogonadotropic hypogonadism as a novel complication in glycogen storage disease (GSD) type 1. Read More

    Dynamic GnRH and hCG testing: establishment of new diagnostic reference levels.
    Eur J Endocrinol 2017 Apr 11;176(4):379-391. Epub 2017 Jan 11.
    Department of Growth and ReproductionRigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Objective: Gonadotropin-releasing hormone (GnRH) and human chorionic gonadotropin (hCG) stimulation tests may be used to evaluate the pituitary and testicular capacity. Our aim was to evaluate changes in follicular-stimulating hormone (FSH), luteinizing hormone (LH) and testosterone after GnRH and hCG stimulation in healthy men and assess the impact of six single nucleotide polymorphisms on the responses.

    Design: GnRH and hCG stimulation tests were performed on 77 healthy men, 18-40 years (reference group) at a specialized andrology referral center at a university hospital. Read More

    Endometriosis and Glanzmann’s thrombasthenia.
    J Biol Regul Homeost Agents 2016 Jul-Sep;30(3):877-882
    Department of Gynecology, Obstetrics and Urology, Sapienza, University of Rome, Policlinico Umberto I, Rome, Italy.
    Glanzmann’s thrombasthenia (GT) is a rare bleeding syndrome characterized by deficiency or defect of platelet aggregation complex. The pathogenesis of endometriosis is controversial but the strongest evidence leans towards retrograde menstruation. GT probably predisposes to endometriosis. Read More

    Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic.
    Gynecol Endocrinol 2016 Dec 10;32(12):991-994. Epub 2016 Sep 10.
    g Çanakkale Military Hospital, Internal Diseases Clinic , Çanakkale , Turkey.
    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. Read More

    Efficacy of a single injection of human chorionic gonadotropin at peak follicular maturation in natural cycles on pregnancy rate and mid-luteal hormonal and sonographic parameters.
    Clin Exp Obstet Gynecol 2016 ;43(3):328-9
    Purpose: To discover if infertile women with presumed luteal phase deficiency would improve pregnancy rates, mid-luteal sera estradiol (E2) and progesterone (P), and increase the percentage of women achieving a mid-luteal sonographic homogeneous hyperechogenic endometrial texture by the addition of a single injection of human chorionic gonadotropin (hCG).

    Materials And Methods: Women with over one year of infertility with regular menses and with no other known infertility factor were presumed to have the need for extra P in the luteal phase based on previous studies. Women aged ≥ 30 years were selected along with women < 30 years who had pelvic pain or dysmenorrhea. Read More

    Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty.
    Minerva Endocrinol 2016 Jun;41(2):188-95
    Endocrinology, Diabetes and Metabolism Service, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland -
    The phenomenon known as "mini-puberty" refers to activation of the neonatal hypothalamo-pituitary axis causing serum concentrations of gonadotrophins and testosterone (T) to approach adult male levels. This early neonatal period is a key proliferative window for testicular germ cells and immature Sertoli cells. Although failure to spontaneously initiate (adolescent) puberty is the most evident consequence of a defective gonadotropin-releasing hormone (GnRH) neurosecretory network, absent mini-puberty is also likely to have a major impact on the reproductive phenotype of men with congenital hypogonadotrophic hypogonadism (CHH). Read More

    [Dysfunction of hypothalamic-pituitary-testicular axis in patients with adrenal hypoplasia congenita due to DAX-1 gene mutation].
    Zhonghua Yi Xue Za Zhi 2016 Apr;96(15):1183-7
    Key Laboratory of Endocrinology, National Health and Family Planning Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
    Objective: To evaluate the hypothalamic-pituitary-testicular axis (HPTA) function and spermatogenesis in male patients with X-linked adrenal hypoplasia congenita (AHC) due to DAX-1 gene mutation.

    Methods: Twenty-four adult male patients from Peking Union Medical College Hospital between November 2007 and December 2014 were included.Their DAX-1 gene mutations were confirmed by polymerase chain reaction (PCR) and clinical features, hormone level and semen assay were collected. Read More

    Acute Female Hypogonadism Alters Adipose Tissue Fatty Acid Storage Factors and Chylomicronemia.
    J Clin Endocrinol Metab 2016 May 22;101(5):2089-98. Epub 2016 Mar 22.
    Endocrine Research Unit (S.S., M.D.J.), and Department of General Internal Medicine (S.L.B.), Mayo Clinic, Rochester, Minnesota 55905; and Department of Exercise Science (S.S.), and PERFORM Centre (S.S.) Concordia University, Montréal, Québec, Canada H4B 1R6.
    Context: Chronic sex steroid deficiency has effects on adipose fatty acid (FA) storage mechanisms and fat oxidation, but the chronology of events are not well understood.

    Objective: The objective of the study was to examine the acute effects of female sex steroid suppression on cellular mechanisms affecting abdominal and femoral subcutaneous adipose tissue FA storage.

    Design: This study had a randomized, longitudinal, parallel study design. Read More

    Causes of hypogonadotropic hypogonadism predict response to gonadotropin substitution in adults.
    Andrology 2016 Jan;4(1):87-94
    Centre of Reproductive Medicine and Andrology, Department of Clinical Andrology, University of Muenster, Muenster, Germany.
    Germ cell and Sertoli cell proliferation and maturation in human testes occur in three main waves, during the late fetal and early neonatal period and at early puberty. They are triggered by periods of increased activity of the hypothalamic-pituitary-gonadal (HPG) axis. In hypogonadotropic hypogonadism (HH), these processes are variably disturbed. Read More

    Acquired Hypogonadotropic Hypogonadism (AHH) in Thalassaemia Major Patients: An Underdiagnosed Condition?
    Mediterr J Hematol Infect Dis 2016 1;8(1):e2016001. Epub 2016 Jan 1.
    National Center for Cancer Care and Research, Department of Hematology and BMT, Hamad Medical Corporation, Doha, Qatar.
    Introduction: In males, acquired hypogonadotropic hypogonadism (AHH) includes all disorders that damage or alter the function of gonadotropin-releasing hormone (GnRH) neurons and/or pituitary gonadotroph cells. The clinical characteristics of AHH are androgen deficiency and lack, delay or halt of pubertal sexual maturation. AHH lead to decreased libido, impaired erectile function, and strength, a worsened sense of well-being and degraded quality of life (QOL). Read More

    Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.
    J Clin Endocrinol Metab 2016 Feb 8;101(2):345-8. Epub 2015 Dec 8.
    Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
    Context: Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency in 46,XX patients is characterized by primary amenorrhea, absent or incomplete sexual maturation, infertility, low serum levels of estradiol, and elevated progesterone (P). There were no previous reports of singleton live births from such women.

    Objective: To describe the first successful singleton live birth in a female with CAH due to 17α-hydroxylase deficiency. Read More

    Absence of luteal phase defect and spontaneous pregnancy in IVF patients despite GnRH-agonist trigger and "freeze all policy" without luteal phase support: a report of four cases.
    Gynecol Endocrinol 2016 16;32(1):18-20. Epub 2015 Nov 16.
    d IVI-GCC Fertility , Abu Dhabi , UAE .
    Human chorionic gonadotropin (hCG) is commonly used for final oocyte maturation in "in vitro fertilization" (IVF)-treatment cycles, however, the main important risk is development of severe ovarian hyperstimulation syndrome (OHSS). OHSS can almost be avoided by using gonadotrophin-releasing-hormone agonist for final oocyte maturation in an antagonist protocol. However, primarily this approach lead to a very poor reproductive outcome, despite the use of a standard luteal phase support. Read More

    Role of Gonadotropin-releasing Hormone Stimulation Test in Diagnosing Gonadotropin Deficiency in Both Males and Females with Delayed Puberty.
    Chin Med J (Engl) 2015 Sep;128(18):2439-43
    Department of Endocrinology, Chinese PLA General Hospital, Beijing 100853, China.
    Background: Delayed puberty can result either from constitutional delay of growth and puberty (CDP) or idiopathic hypogonadotropic hypogonadism (IHH). Gonadotropin-releasing hormone (GnRH) stimulation test has been generally accepted as a current method for diagnosing delayed puberty. The objective of this research was to assess the cut-off values and the efficacy of GnRH stimulation test in the diagnosis of delayed puberty in both males and females. Read More

    Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis.
    J Neurosurg 2016 Mar 7;124(3):589-95. Epub 2015 Aug 7.
    Department of Neurosurgery and The California Center for Pituitary Disorders, University of California, San Francisco, California.
    Objective: The impact of transsphenoidal surgery for nonfunctional pituitary adenomas (NFAs) on preoperative hypopituitarism relative to the incidence of new postoperative endocrine deficits remains unclear. The authors investigated rates of hypopituitarism resolution and development after transsphenoidal surgery.

    Methods: Over a 5-year period, 305 transsphenoidal surgeries for NFAs performed at The California Center for Pituitary Disorders were retrospectively reviewed. Read More

    Novel approaches to short stature therapy.
    Best Pract Res Clin Endocrinol Metab 2015 Jun 7;29(3):353-66. Epub 2015 Feb 7.
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:
    Besides growth hormone, several pharmaceutical products have been investigated for efficacy and safety in increasing short term growth or adult height. Short-term treatment with testosterone esters in boys with constitutional delay of growth and puberty is efficacious in generating secondary sex characteristics and growth acceleration. The addition of oxandrolone to growth hormone (GH) in Turner syndrome has an additive effect on adult height gain. Read More

    Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.
    J Clin Invest 2015 Jun 18;125(6):2413-28. Epub 2015 May 18.
    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. Read More

    Endocr Pract 2015 Jun 9;21(6):586-9. Epub 2015 Feb 9.
    Objective: 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. Read More

    Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients.
    Asian J Androl 2015 May-Jun;17(3):497-502
    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. Read More

    Biochemical and MRI findings of Kallmann's syndrome.
    BMJ Case Rep 2014 Dec 9;2014. Epub 2014 Dec 9.
    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. Read More

    The activity of satellite cells and myonuclei following 8 weeks of strength training in young men with suppressed testosterone levels.
    Acta Physiol (Oxf) 2015 Mar 15;213(3):676-87. Epub 2014 Nov 15.
    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. Read More

    Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.
    PLoS Biol 2014 Sep 23;12(9):e1001952. Epub 2014 Sep 23.
    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. Read More

    Mutations in FEZF1 cause Kallmann syndrome.
    Am J Hum Genet 2014 Sep;95(3):326-31
    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. Read More

    The spatiotemporal segregation of GAD forms defines distinct GABA signaling functions in the developing mouse olfactory system and provides novel insights into the origin and migration of GnRH neurons.
    Dev Neurobiol 2015 Mar 14;75(3):249-70. Epub 2014 Aug 14.
    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. Read More

    Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
    J Clin Endocrinol Metab 2014 Oct 17;99(10):E2067-75. Epub 2014 Jul 17.
    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. Read More

    The prognostic significance of combined ERG and androgen receptor expression in patients with prostate cancer managed by androgen deprivation therapy.
    Cancer Biol Ther 2014 Sep 27;15(9):1120-8. Epub 2014 Jun 27.
    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). Read More

    Selective estrogen receptor alpha agonist GTx-758 decreases testosterone with reduced side effects of androgen deprivation therapy in men with advanced prostate cancer.
    Eur Urol 2015 Feb 24;67(2):334-41. Epub 2014 Jun 24.
    GTx, Inc., Memphis, TN, USA.
    Background: 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. Read More

    Impaired kisspeptin signaling decreases metabolism and promotes glucose intolerance and obesity.
    J Clin Invest 2014 Jul 17;124(7):3075-9. Epub 2014 Jun 17.
    The 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). Read More

    Premature ovarian insufficiency - fertility challenge.
    Minerva Ginecol 2014 Apr;66(2):133-53
    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. Read More

    Leptin-dependent neuronal NO signaling in the preoptic hypothalamus facilitates reproduction.
    J Clin Invest 2014 Jun 8;124(6):2550-9. Epub 2014 May 8.
    The 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. Read More

    Response of Indian growth hormone deficient children to growth hormone therapy: association with pituitary size.
    Indian J Pediatr 2015 May 29;82(5):404-9. Epub 2014 Apr 29.
    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. Read More

    Effects of hyperandrogenemia and increased adiposity on reproductive and metabolic parameters in young adult female monkeys.
    Am J Physiol Endocrinol Metab 2014 Jun 15;306(11):E1292-304. Epub 2014 Apr 15.
    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. Read More

    Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
    Pediatr Endocrinol Rev 2014 Mar;11(3):298-305
    Overexpression 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. Read More

    A case of hyperpigmentation and acanthosis nigricans by testosterone injections.
    Hum Exp Toxicol 2014 Dec 6;33(12):1297-301. Epub 2014 Feb 6.
    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. Read More

    Androgen deprivation decreases prostate specific antigen in the absence of tumor: implications for interpretation of PSA results.
    Clin Chem Lab Med 2014 Mar;52(3):431-6
    Background: 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. Read More

    Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2.
    J Clin Endocrinol Metab 2014 Mar 1;99(3):E561-6. Epub 2014 Jan 1.
    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. Read More

    Dehydroepiandrostendione sulphate and prediction of live birth after IVF in young women with low anti-Müllerian hormone concentration.
    Reprod Biomed Online 2014 Feb 5;28(2):191-7. Epub 2013 Oct 5.
    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). Read More

    PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
    Brain 2014 Jan 19;137(Pt 1):69-77. Epub 2013 Dec 19.
    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. Read More

    Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
    Hum Mol Genet 2014 Feb 9;23(4):1013-24. Epub 2013 Oct 9.
    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. Read More

    Lack of functional GABAB receptors alters Kiss1 , Gnrh1 and Gad1 mRNA expression in the medial basal hypothalamus at postnatal day 4.
    Neuroendocrinology 2013 6;98(3):212-23. Epub 2013 Nov 6.
    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). Read More

    Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism.
    J Clin Endocrinol Metab 2013 Nov 13;98(11):E1790-5. Epub 2013 Sep 13.
    MD, Endocrine, Diabetes, and Metabolism Service, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, Lausanne, Switzerland 1011.
    Context And Objective: The optimal strategy for inducing fertility in men with congenital hypogonadotropic hypogonadism (CHH) is equivocal. Albeit a biologically plausible approach, pretreatment with recombinant FSH (rFSH) before GnRH/human chorionic gonadotropin administration has not been sufficiently assessed. The objective of the study was to test this method. Read More

    Gonadal steroids and body composition, strength, and sexual function in men.
    N Engl J Med 2013 Sep;369(11):1011-22
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
    Background: Current approaches to diagnosing testosterone deficiency do not consider the physiological consequences of various testosterone levels or whether deficiencies of testosterone, estradiol, or both account for clinical manifestations.

    Methods: We provided 198 healthy men 20 to 50 years of age with goserelin acetate (to suppress endogenous testosterone and estradiol) and randomly assigned them to receive a placebo gel or 1.25 g, 2. Read More

    Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.
    Exp Physiol 2013 Nov 16;98(11):1522-7. Epub 2013 Aug 16.
    Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.
    Mutations in the genes encoding the neuropeptides kisspeptin and neurokinin B, as well as their receptors, are associated with gonadotrophin-releasing hormone (GnRH) deficiency and a failure to initiate and/or progress through puberty. Although the total number of patients studied to date is small, mutations in the kisspeptin pathway appear to result in lifelong GnRH deficiency. Mice with mutations in kisspeptin and the kisspeptin receptor, Kiss1(-/-) and Kiss1r(-/-), respectively, appear to be phenocopies of the human with abnormal sexual maturation and infertility. Read More

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