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


Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome.

Endocrinol Diabetes Metab Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.

Endocrinology Department, Parc Taulí University Hospital, Sabadell, Barcelona, Spain.

Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Read More

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https://edm.bioscientifica.com/view/journals/edm/2017/1/EDM1
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http://dx.doi.org/10.1530/EDM-17-0083DOI Listing
September 2017
10 Reads

Gonadotropin-releasing hormone (GnRH) deficiency under treatment: psychological and sexual functioning impacts.

Hormones (Athens) 2018 Sep 30;17(3):383-390. Epub 2018 Aug 30.

Department of Psychiatry, University of Patras Medical School, Patras, Greece.

Objective: GnRH (gonadotropin releasing hormone) is a crucial hormone for sexual development, puberty, and fertility, and its deficiency leads to hypogonadotropic hypogonadism (HH), which causes abnormal secondary sexual development and infertility. The combination of the lack of sense of smell, i.e. Read More

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http://dx.doi.org/10.1007/s42000-018-0055-zDOI Listing
September 2018
7 Reads

Rare cause of manic period trigger in bipolar mood disorder: testosterone replacement.

BMJ Case Rep 2018 Aug 3;2018. Epub 2018 Aug 3.

Department of Endocrinology and Metabolism, School of Medicine, Gaziantep University, Gaziantep, Turkey.

Hypogonadotropic hypogonadism is a rare congenital disorder characterised by the deficiency and the absence of puberty and infertility. It is caused by the deficient production, secretion or action of gonadotropin-releasing hormone, which is the master hormone regulating the reproductive axis. Gonadotropin-releasing hormone or gonadotropin injections and testosterone replacement therapy are required in the treatment of this disorder. Read More

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http://dx.doi.org/10.1136/bcr-2018-225108DOI Listing
August 2018
2 Reads

Rare case of Gordon Holmes syndrome.

BMJ Case Rep 2018 Jun 28;2018. Epub 2018 Jun 28.

Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India.

Young-onset cerebellar syndromes are quite interesting and challenging for treating clinicians. While dealing with such cases, a clinician should be aware of rare possible causes too. We report a rare case of Gordon Holmes syndrome-an autosomal recessive cerebellar ataxia with endocrinal abnormalities. Read More

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http://dx.doi.org/10.1136/bcr-2018-225638DOI Listing
June 2018
3 Reads

Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies.

Horm Res Paediatr 2018 Jun 25:1-7. Epub 2018 Jun 25.

Department of Environment and Health, University of Leuven, Leuven, Belgium.

Background: Biologicals targeting the interleukin (IL)-1β or IL-6 pathway are becoming prime choices for the treatment of children with systemic juvenile idiopathic arthritis (sJIA). Up to 1 in 3 sJIA children receiving such treatment continues to have inflammatory activity and to require supra-physiological glucocorticoid doses which may reduce growth velocity for years and may lead to an extremely short stature for age, if not for life. Currently, there is no long-term proposal to normalize the adult height of these children with sJIA. Read More

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http://dx.doi.org/10.1159/000489778DOI Listing
June 2018
20 Reads

Long-term treatment outcomes of intermittent androgen deprivation therapy for relapsed prostate cancer after radical prostatectomy.

PLoS One 2018 24;13(5):e0197252. Epub 2018 May 24.

Department of Urology, Obihiro-Kosei General Hospital, Obihiro, Hokkaido, Japan.

Purpose: Intermittent androgen deprivation therapy is an effective treatment for metastatic prostate cancer. However, no study to date has evaluated the long-term outcomes of this treatment among patients with prostate cancer after radical prostatectomy. We retrospectively examined the treatment outcomes of patients with prostate-specific antigen recurrence who underwent radical prostatectomy at our department. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197252PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967753PMC
December 2018
2 Reads

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

Hum Mol Genet 2018 01;27(2):359-372

Endocrinology, Diabetes & Metabolism Service, Centre Hospitalier Universitaire Vaudois (CHUV), Faculty of Biology & Medicine, University of Lausanne, 1005 Lausanne, Switzerland.

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. Read More

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http://dx.doi.org/10.1093/hmg/ddx408DOI Listing
January 2018
18 Reads

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

Metabolism 2018 Sep 3;86:124-134. 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

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http://dx.doi.org/10.1016/j.metabol.2017.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5934335PMC
September 2018
8 Reads

In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report.

Gynecol Endocrinol 2018 May 26;34(5):385-388. Epub 2017 Oct 26.

a Reproductive Medicine Center, Department of Obstetrics and Gynecology , Nanjing Drum Tower Hospital, The Affiliated Drum Tower Hospital of Nanjing University Medical School , Nanjing , China.

Cytochrome P450 enzymes are required for the synthesis of cholesterol and steroid hormones. Cytochrome P450 oxidoreductase (POR) donates electrons to microsomal cytochrome P450 enzymes. POR deficiency (PORD) is a rare autosomal recessive disease. Read More

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http://dx.doi.org/10.1080/09513590.2017.1393663DOI Listing
May 2018
17 Reads

Gordon Holmes syndrome: finally genotype meets phenotype.

Pract Neurol 2017 Dec 28;17(6):476-478. Epub 2017 Sep 28.

Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK.

We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. Recent genetic advances allowed the identification of the genetic defects responsible for this rather unusual combination of endocrine and neurological involvement. Read More

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http://dx.doi.org/10.1136/practneurol-2017-001674DOI Listing
December 2017
8 Reads

Curative effect of 1.88-mg and 3.75-mg gonadotrophin-releasing hormone agonist on stage III-IV endometriosis: Randomized controlled study.

J Obstet Gynaecol Res 2017 Oct 14;43(10):1550-1554. Epub 2017 Jul 14.

Central Laboratory, Peking University Shenzhen Hospital, Shenzhen, China.

Aim: To compare the therapeutic effect of 1.88-mg and 3.75-mg gonadotrophin-releasing hormone agonist (GnRHa) in the treatment of stage III-IV endometriosis after laparoscopic surgery. Read More

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http://dx.doi.org/10.1111/jog.13420DOI Listing
October 2017
31 Reads

Acute Testosterone Deficiency Alters Adipose Tissue Fatty Acid Storage.

J Clin Endocrinol Metab 2017 08;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

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http://dx.doi.org/10.1210/jc.2017-00757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546853PMC
August 2017
35 Reads

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

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http://dx.doi.org/10.1111/epi.13760DOI Listing
June 2017
10 Reads

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

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http://dx.doi.org/10.1136/bcr-2016-218729DOI Listing
June 2017
40 Reads

GnRH agonist for protection against ovarian toxicity during chemotherapy for early breast cancer: the Anglo Celtic Group OPTION trial.

Ann Oncol 2017 Aug;28(8):1811-1816

MRC Centre for Reproductive Health, University of Edinburgh, Edinburgh, UK.

Background: Chemotherapy-induced premature ovarian insufficiency (POI) impacts fertility and other aspects of women's health. The OPTION trial tested whether administration of a gonadotropin-releasing hormone agonist during chemotherapy for early breast cancer reduced the risk of POI.

Patients And Methods: This was a prospective, randomized, parallel group study of the gonadotropin-releasing hormone agonist goserelin administered before and during chemotherapy for breast cancer with stage I-IIIB disease. Read More

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http://dx.doi.org/10.1093/annonc/mdx184DOI Listing
August 2017
2 Reads

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 07;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

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http://dx.doi.org/10.1210/jc.2016-3990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505206PMC
July 2017
34 Reads
6.210 Impact Factor

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

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http://dx.doi.org/10.1093/hmg/ddx080DOI Listing
June 2017
52 Reads

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

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http://dx.doi.org/10.1186/s13023-017-0580-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307643PMC
February 2017
17 Reads

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

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http://dx.doi.org/10.1007/8904_2016_38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680278PMC
February 2017
23 Reads

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

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http://dx.doi.org/10.1530/EJE-16-0912DOI Listing
April 2017
8 Reads

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

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February 2017
6 Reads

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

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http://dx.doi.org/10.1080/09513590.2016.1214258DOI Listing
December 2016
24 Reads

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

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July 2016
6 Reads

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

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June 2016
4 Reads

[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

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http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2016.15.008DOI Listing
April 2016
8 Reads

Acute Female Hypogonadism Alters Adipose Tissue Fatty Acid Storage Factors and Chylomicronemia.

J Clin Endocrinol Metab 2016 05 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

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http://dx.doi.org/10.1210/jc.2015-4065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870847PMC
May 2016
4 Reads

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

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http://dx.doi.org/10.1111/andr.12128DOI Listing
January 2016
10 Reads

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

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http://dx.doi.org/10.4084/MJHID.2016.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696472PMC
January 2016
19 Reads

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

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http://dx.doi.org/10.1210/jc.2015-3201DOI Listing
February 2016
13 Reads

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

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http://dx.doi.org/10.3109/09513590.2015.1110694DOI Listing
December 2016
15 Reads

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

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http://dx.doi.org/10.4103/0366-6999.164926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725567PMC
September 2015
19 Reads

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

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http://dx.doi.org/10.3171/2015.1.JNS141543DOI Listing
March 2016
15 Reads

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

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http://dx.doi.org/10.1016/j.beem.2015.01.003DOI Listing
June 2015
6 Reads

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

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http://www.jci.org/articles/view/78448
Publisher Site
http://dx.doi.org/10.1172/JCI78448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497752PMC
June 2015
18 Reads

BIRD'S-EYE VIEW OF GnRH ANALOG USE IN A PEDIATRIC ENDOCRINOLOGY REFERRAL CENTER.

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

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http://dx.doi.org/10.4158/EP14412.ORDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344188PMC
June 2015
9 Reads

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

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http://dx.doi.org/10.4103/1008-682X.145072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430958PMC
February 2016
5 Reads

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

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http://dx.doi.org/10.1136/bcr-2014-207386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265034PMC
December 2014
4 Reads

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

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http://dx.doi.org/10.1111/apha.12404DOI Listing
March 2015
3 Reads

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

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http://dx.doi.org/10.1371/journal.pbio.1001952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172557PMC
September 2014
26 Reads

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

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http://dx.doi.org/10.1016/j.ajhg.2014.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157145PMC
September 2014
12 Reads
8 Citations
10.930 Impact Factor

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

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http://dx.doi.org/10.1002/dneu.22222DOI Listing
March 2015
13 Reads

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

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http://dx.doi.org/10.1210/jc.2014-1836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393493PMC
October 2014
22 Reads

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

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http://www.tandfonline.com/doi/abs/10.4161/cbt.29689
Publisher Site
http://dx.doi.org/10.4161/cbt.29689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4128855PMC
September 2014
8 Reads

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

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http://dx.doi.org/10.1016/j.eururo.2014.06.011DOI Listing
February 2015
16 Reads

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

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http://dx.doi.org/10.1172/JCI71075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071390PMC
July 2014
10 Reads

Premature ovarian insufficiency - fertility challenge.

Authors:
J H Check

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

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April 2014
4 Reads

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

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http://dx.doi.org/10.1172/JCI65928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4089460PMC
June 2014
13 Reads

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

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http://dx.doi.org/10.1007/s12098-014-1412-9DOI Listing
May 2015
16 Reads

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

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http://www.physiology.org/doi/10.1152/ajpendo.00310.2013
Publisher Site
http://dx.doi.org/10.1152/ajpendo.00310.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042098PMC
June 2014
4 Reads