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

Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice.

Am J Physiol Endocrinol Metab 2021 03 14;320(3):E415-E424. Epub 2020 Dec 14.

Clinical and Experimental Endocrinology, Department of Chronic Diseases and Metabolism (CHROMETA), KU Leuven, Leuven, Belgium.

Sex steroids are critical for skeletal development and maturation during puberty as well as for skeletal maintenance during adult life. However, the exact time during puberty when sex steroids have the highest impact as well as the ability of bone to recover from transient sex steroid deficiency is unclear. Surgical castration is a common technique to study sex steroid effects in rodents, but it is irreversible, invasive, and associated with metabolic and behavioral alterations. Read More

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Somatotropic-Testicular Axis: A crosstalk between GH/IGF-I and gonadal hormones during development, transition, and adult age.

Andrology 2021 01 23;9(1):168-184. Epub 2020 Oct 23.

Department of Experimental Medicine, Sapienza University, Rome, Italy.

Background: The hypothalamic-pituitary-gonadal (HPG) and hypothalamic-pituitary-somatotropic (HPS) axes are strongly interconnected. Interactions between these axes are complex and poorly understood. These interactions are characterized by redundancies in reciprocal influences at each level of regulation and the combination of endocrine and paracrine effects that change during development. Read More

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January 2021

A closer look at the role of insulin for the regulation of male reproductive function.

Gen Comp Endocrinol 2021 01 2;300:113643. Epub 2020 Oct 2.

Neurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

While insulin demonstrates to have a considerable influence on the reproductive system, there are various unanswered questions regarding its precise sites, mechanisms of action, and roles for the developing and functioning of the adult male reproductive system. Apart from its effects on glucose level, insulin has an important role in the reproductive system directly by binding on insulin and IGF receptors in the brain and testis. To date, however, the effect of insulin or its alterations on blood-testis-barrier, as an important regulator of normal spermatogenesis and fertility, has not yet been studied. Read More

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January 2021

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in , and Genes in a Case Series and Review of the Literature.

Front Endocrinol (Lausanne) 2020 28;11:626. Epub 2020 Aug 28.

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far a limited number of variants in several genes have been associated with the pathogenesis of the disease. In this original research and review manuscript the retrospective analysis of known variants in (, and genes is described, along with novel variants identified in patients with CHH by the present study. Read More

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Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.

J Pediatr Endocrinol Metab 2020 Sep;33(9):1237-1240

Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Bruxelles, Belgium.

Objectives Congenital hypogonadotropic hypogonadism (CHH) is a rare condition resulting from GnRH deficiency. Gonadotropin Releasing Hormone 1 (GNRH1) homozygous mutations are an extremely rare cause of normosmic CHH (nCHH). Most heterozygous individuals are asymptomatic, with the notable exception of individuals heterozygous for a p. Read More

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September 2020

Multiple-dose versus single-dose gonadotropin-releasing hormone agonist after first in vitro fertilization failure associated with luteal phase deficiency: A randomized controlled trial.

Danni Qu Yuan Li

J Int Med Res 2020 Jun;48(6):300060520926026

Medical Center for Human Reproduction, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.

Objective: To evaluate the efficacy and safety of multiple- versus single-dose gonadotropin-releasing hormone agonist (GnRH-a) addition to luteal phase support (LPS), in patients with a first in vitro fertilization (IVF) failure associated with luteal phase deficiency (LPD).

Methods: Eighty patients with a first IVF failure associated with LPD were randomly assigned into single-dose and multiple-dose GnRH-a groups. In the second IVF attempt, patients in the single-dose group were given standard LPS plus a single dose of GnRH-a 6 days after oocyte retrieval. Read More

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Hypogonadotropic hypogonadism due to variants in : expanding the phenotypic and genotypic spectrum of Martsolf syndrome.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Harvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Biallelic pathogenic variants in cause Warburg Micro syndrome (WARBM) and Martsolf syndrome (MS), two rare, phenotypically overlapping disorders characterized by congenital cataracts, intellectual disability, and hypogonadism. Although the initial report documented hypergonadotropic hypogonadism (implying a gonadal defect), an adolescent girl with WARBM/MS was subsequently reported to have hypogonadotropic hypogonadism (implying a central defect in either the hypothalamus or anterior pituitary). However, in adult MS, hypogonadotropism has not been convincingly demonstrated. Read More

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Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Cerebellum 2020 Aug;19(4):544-549

Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.

Mutations in STUB1 have been identified to cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16), also named as Gordon Holmes syndrome, which is characterized by cerebellar ataxia, cognitive decline, and hypogonadism. Additionally, several heterozygous mutations in STUB1 have recently been described as a cause of autosomal dominant spinocerebellar ataxia type 48. STUB1 encodes C-terminus of HSC70-interacting protein (CHIP), which functions as an E3 ubiquitin ligase and co-chaperone and has been implicated in several neurodegenerative diseases. Read More

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A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency.

Neuroendocrinology 2021 4;111(5):421-441. Epub 2020 May 4.

Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy,

Introduction: Gonadotropin-releasing hormone (GnRH) deficiency causes hypogonadotropic hypogonadism (HH), a rare genetic disorder that impairs sexual reproduction. HH can be due to defective GnRH-secreting neuron development or function and may be associated with other clinical signs in overlapping genetic syndromes. With most of the cases being idiopathic, genetics underlying HH is still largely unknown. Read More

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Effect of Gonadotropin-Releasing Hormone Antagonist on Risk of Committing Child Sexual Abuse in Men With Pedophilic Disorder: A Randomized Clinical Trial.

JAMA Psychiatry 2020 09;77(9):897-905

Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Importance: Evidence-based treatments from randomized clinical trials for pedophilic disorder are lacking.

Objective: To determine whether a gonadotropin-releasing hormone antagonist reduces dynamic risk factors for committing child sexual abuse.

Design, Setting, And Participants: This academically initiated, double-blind, placebo-controlled, parallel-group, phase 2 randomized clinical trial was conducted at the ANOVA center in Stockholm, Sweden, from March 1, 2016, to April 30, 2019. Read More

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September 2020

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.

Clin Genet 2020 05 21;97(5):696-703. Epub 2020 Feb 21.

Health Management Center of Xiangya Hospital, Central South University, Changsha, China.

Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder characterized by impaired sexual development and infertility, caused by the deficiency of hypothalamic gonadotropin-releasing hormone neurons. IHH is named Kallmann's syndrome (KS) or normosmic IHH (nIHH) when associated with a defective or normal sense of smell. Variants in SEMA3A have been recently identified in patients with KS. Read More

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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

J Clin Endocrinol Metab 2020 05;105(5)

Service de Génétique Clinique, CHU Robert Debré, Paris, France.

Context: The reproductive axis is controlled by a network of gonadotropin-releasing hormone (GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside axons of the olfactory system. The observation that congenital anosmia (inability to smell) is often associated with GnRH deficiency in humans led to the prevailing view that GnRH neurons depend on olfactory structures to reach the brain, but this hypothesis has not been confirmed.

Objective: The objective of this work is to determine the potential for normal reproductive function in the setting of completely absent internal and external olfactory structures. Read More

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The effect of anaemia on normal tissue toxicity and survival outcomes in prostate cancer treated with radical radiotherapy and neo-adjuvant androgen deprivation.

Br J Radiol 2020 Apr 29;93(1108):20190577. Epub 2020 Jan 29.

Cancer Trials Ireland (formally All-Ireland Cooperative Oncology Research Group, ICORG), Dublin, Ireland.

Objective: It has been established that survival and toxicity outcomes in some cancer types could be influenced by haemoglobin (Hb) levels. This study aims to determine if pre-treatment Hb is associated with late toxicity or survival outcomes in prostate cancer.

Methods: Data from one Phase III randomised controlled trial and one single arm translational trial were analysed. Read More

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Update on methods to enhance growth.

Curr Opin Endocrinol Diabetes Obes 2020 02;27(1):82-86

Division of Pediatric Endocrinology, University of Washington and Seattle Children's Hospital, Seattle, Washington, USA.

Purpose Of Review: To discuss treatments used to enhance growth in pediatric patients with short stature.

Recent Findings: New data confirm the known efficacy of recombinant human growth hormone (rhGH) in growth hormone deficiency (GHD) and idiopathic short stature. The latest data from the Safety and Appropriateness of Growth hormone Treatment in Europe cohort did not indicate a long-term risk of malignancy in those treated for isolated GHD, but possibly increased risk in those with other diagnoses. Read More

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February 2020

Preoperative growth hormone (GH) peak values during a GH releasing peptide-2 test reflect the severity of hypopituitarism and the postoperative recovery of GH secretion in patients with non-functioning pituitary adenomas.

Endocr J 2020 Feb 26;67(2):167-175. Epub 2019 Nov 26.

Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School, Tokyo 113-8603, Japan.

Non-functioning pituitary adenoma (NFPA) is one common cause of adult growth hormone deficiency (AGHD). In Japan, a GH-releasing peptide (GHRP)-2 test is used to evaluate GH secretion. Although the cut-off for peak GH during a GHRP-2 test for severe AGHD is ≤9 ng/mL, severe AGHD may further diminish responses (range, nearly no-response to ≤9 ng/mL). Read More

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February 2020

Short-term effect of pharmacologically induced alterations in testosterone levels on common blood biomarkers in a controlled healthy human model.

Scand J Clin Lab Invest 2020 Feb 18;80(1):25-31. Epub 2019 Nov 18.

Section for Clinical Chemistry, Department of Translational Medicine, Lund University, Skåne University Hospital Malmö, Malmö, Sweden.

Testosterone deficiency in males is associated with serious comorbidities such as cardiovascular disease, diabetes type two, and also an increased risk of premature death. The pathogenetic mechanism behind this association, however, has not yet been clarified and is potentially bidirectional. The aim of this clinical trial was to gain insight into the short-term effect of changes in testosterone on blood analytes in healthy young men. Read More

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February 2020

[Kallmann-de Morsier syndrome: about 3 cases].

Pan Afr Med J 2019 18;33:221. Epub 2019 Jul 18.

Faculté de Médecine et de Pharmacie de Fès, Université Sidi Mohamed Ben Abdellah, Fès, Maroc.

Kallmann-de Morsier syndrome (KS) is a genetic disease of the olfactory system characterized by the association of hypogonadotropic hypogonadism also referred to as gonadotropin-releasing hormone (GnRH) deficiency and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). Apart from sporadic cases that occur most often, familial Kallmann's syndrome is being described with increasing frequency. Diagnosis is mainly made in adolescents with absence of spontaneous puberty associated with smell disorders with hypoplasia or even aplasia of the bulbs and/or of the olfactory lobes on MRI. Read More

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November 2019

Combined use of oestradiol and progesterone to support luteal phase in antagonist intracytoplasmic sperm injection cycles of normoresponder women: a case-control study.

J Obstet Gynaecol 2020 Feb 28;40(2):264-269. Epub 2019 Aug 28.

Zeynep Kamil Women and Children's Diseases Training and Research Hospital, IVF Center, Istanbul, Turkey.

We evaluated the effect of combined use of oral oestrogen (E2) and vaginal progesterone (P) to support luteal phase in antagonist intracytoplasmic sperm injection (ICSI) cycles. We analysed data from 176 patients who underwent ICSI cycles with antagonist protocol. P 90 mg vaginal gel once a day and micronised E2 of 4 mg/day, were started from the day of oocyte pick up and continued to the 12th day of embryo transfer. Read More

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February 2020

Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency.

Horm Res Paediatr 2019 27;92(3):203-208. Epub 2019 Aug 27.

Department of Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey.

11β-hydroxylase deficiency (11β-OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Males with 11β-OHD CAH are often diagnosed late with a significantly advanced bone age leading to a poor height prognosis due to early closure of epiphysis. Delaying epiphyseal fusion by treatment of aromatase inhibitors (AIs) might be a useful strategy in patients with very advanced bone ages. Read More

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Physical changes, laboratory parameters, and bone mineral density during testosterone treatment in adolescents with gender dysphoria.

J Sex Med 2019 09 9;16(9):1459-1468. Epub 2019 Aug 9.

Department of Pediatrics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address:

Introduction: Current treatment guidelines for adolescents with gender dysphoria recommend therapy with gonadotropin-releasing hormone agonists (GnRHa) and testosterone in transgender males. However, most evidence on the safety and efficacy of testosterone is based on studies in adults.

Aim: This study aimed to investigate the efficacy and safety of testosterone treatment in transgender adolescents. Read More

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September 2019

Acute Bioprosthetic Mitral Valve Thrombosis: An Unfortunate Collision of Prothrombotic Risk Factors.

Heart Surg Forum 2019 07 25;22(4):E298-E300. Epub 2019 Jul 25.

Department of Cardiovascular and Thoracic Surgery, Lenox Hill Hospital/Northwell Health, New York, New York, USA.

Subclinical and clinical thrombosis of bioprosthetic cardiac valves is more common than has been previously recognized. We present a unique case of acute thrombosis of a bioprosthetic mitral valve in a 40-year-old female patient undergoing hormonal stimulation as part of in vitro fertilization therapy, who also had concomitant protein C deficiency that was undiagnosed at the time. To the best of our knowledge, this is the first reported case of acute bioprosthetic valve thrombosis in this complex thrombophilic milieu, and suggests the need for increased screening for prothrombotic risk factors in female patients with bioprosthetic valves before they commence gonadotropin stimulation therapy. Read More

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Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.

Elife 2019 07 10;8. Epub 2019 Jul 10.

Jean-Pierre Aubert Research Center (JPArc), Laboratory of Development and Plasticity of the Neuroendocrine Brain, Inserm, UMR-S 1172, Lille, France.

Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Müllerian hormone () and its receptor, , in 3% of CHH probands using whole-exome sequencing. We showed that during embryonic development, AMH is expressed in migratory GnRH neurons in both mouse and human fetuses and unconvered a novel function of AMH as a pro-motility factor for GnRH neurons. Read More

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Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

J Clin Endocrinol Metab 2019 08;104(8):3403-3414

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.

Context: After completion of puberty a subset of men experience functional hypogonadotropic hypogonadism (FHH) secondary to excessive exercise or weight loss. This phenomenon is akin to hypothalamic amenorrhea (HA) in women, yet little is known about FHH in men.

Objective: To investigate the neuroendocrine mechanisms, genetics, and natural history underlying FHH. Read More

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Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.

Endocr Rev 2019 10;40(5):1285-1317

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

This review presents a comprehensive discussion of the clinical condition of delayed puberty, a common presentation to the pediatric endocrinologist, which may present both diagnostic and prognostic challenges. Our understanding of the genetic control of pubertal timing has advanced thanks to active investigation in this field over the last two decades, but it remains in large part a fascinating and mysterious conundrum. The phenotype of delayed puberty is associated with adult health risks and common etiologies, and there is evidence for polygenic control of pubertal timing in the general population, sex-specificity, and epigenetic modulation. Read More

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October 2019

GnRH agonist treatment of luteal phase deficiency in HCG-triggered IVF cycles: a matched case-control study.

Reprod Biomed Online 2019 Aug 5;39(2):225-230. Epub 2019 Apr 5.

Molecular Assisted Reproduction and Genetics, MAR&Gen Clinic, Camino de Ronda 2, Granada 18006, Spain. Electronic address:

Research Question: This study aimed to identify women with IVF failure associated with low serum progesterone levels after embryo transfer in HCG-triggered cycles and to evaluate the effects of gonadotrophin-releasing hormone (GnRH) agonist, administered after embryo transfer, on serum progesterone and pregnancy outcomes in these cases.

Design: Fifty women who failed to achieve an ongoing clinical pregnancy and had abnormally low luteal-phase serum progesterone concentrations in their first IVF attempt were assigned to two matched groups in their subsequent attempt. Twenty-five women were treated with the original protocol plus14 daily injections of GnRH agonist, beginning on the day of oocyte recovery, in their second IVF attempt (group 1). Read More

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Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

J Clin Endocrinol Metab 2019 10;104(10):4304-4318

Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts.

Context: Kisspeptin-neurokinin B (NKB)-dynorphin neurons are critical regulators of the hypothalamic-pituitary-gonadal axis. NKB and dynorphin are hypothesized to influence the frequency of GnRH pulses, whereas kisspeptin is hypothesized to be a generator of the GnRH pulse. How these neuropeptides interact remains unclear. Read More

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October 2019

Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.

Hum Mol Genet 2019 09;28(17):2862-2873

Institute for Genetics, University of Cologne, Zülpicher Str. 47a, 50674 Cologne, Germany.

Gordon Holmes syndrome (GDHS) is an adult-onset neurodegenerative disorder characterized by ataxia and hypogonadotropic hypogonadism. GDHS is caused by mutations in the gene encoding the RING-between-RING (RBR)-type ubiquitin ligase RNF216, also known as TRIAD3. The molecular pathology of GDHS is not understood, although RNF216 has been reported to modify several substrates with K48-linked ubiquitin chains, thereby targeting them for proteasomal degradation. Read More

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September 2019

Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.

J Assist Reprod Genet 2019 Jun 9;36(6):1273-1280. Epub 2019 May 9.

Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia.

Purpose: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder mostly characterized by gonadotropins release and/or action deficiencies. Both isolated (idiopathic hypogonadotropic hypogonadism) and syndromic (Kallmann) forms are identified depending on the olfactory ability. Clinical and genetic heterogeneities of CHH have been widely explored, thus improving our understanding of the disease's pathophysiology. Read More

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Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.

Horm Res Paediatr 2019 4;91(1):9-16. Epub 2019 Apr 4.

Department of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.

Background: Congenital hypogonadotropic hypogonadism (CHH) is a heterogeneous disorder characterized by delayed or loss of puberty and infertility due to functional deficiency in the hypothalamic gonadotropin-releasing hormone (GnRH). CHH can be classified into 2 subtypes on the basis of olfaction: Kallmann syndrome and normosmic CHH (nCHH). The spectrum of genetic variants causing CHH is continually expanding. Read More

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November 2019

Effect of Testosterone on Natriuretic Peptide Levels.

J Am Coll Cardiol 2019 03;73(11):1288-1296

Endocrine Unit, Department of Medicine, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts.

Background: Circulating natriuretic peptide (NP) levels are markedly lower in healthy men than women. A relative NP deficiency in men could contribute to their higher risk of hypertension and cardiovascular disease. Epidemiological studies suggest testosterone may contribute to sex-specific NP differences. Read More

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