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


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

Cold Spring Harb Mol Case Stud 2020 Jun 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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http://dx.doi.org/10.1101/mcs.a005033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304352PMC

A novel SEMA3G mutation in two siblings affected by syndromic GnRH deficiency.

Neuroendocrinology 2020 May 4. Epub 2020 May 4.

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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http://dx.doi.org/10.1159/000508375DOI Listing

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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http://dx.doi.org/10.1259/bjr.20190577DOI Listing

Update on methods to enhance growth.

Curr Opin Endocrinol Diabetes Obes 2020 Feb;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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http://dx.doi.org/10.1097/MED.0000000000000513DOI Listing
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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http://dx.doi.org/10.1507/endocrj.EJ19-0288DOI Listing
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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http://dx.doi.org/10.11604/pamj.2019.33.221.11678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814956PMC
November 2019

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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https://www.karger.com/Article/FullText/501456
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http://dx.doi.org/10.1159/000501456DOI Listing
May 2020
1 Read

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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http://dx.doi.org/10.1016/j.jsxm.2019.06.014DOI Listing
September 2019
4 Reads

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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http://dx.doi.org/10.1532/hsf.2389DOI Listing
July 2019
4 Reads

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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http://dx.doi.org/10.7554/eLife.47198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620045PMC
July 2019
6 Reads
8.519 Impact Factor

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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http://dx.doi.org/10.1210/jc.2018-02697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594303PMC
August 2019
7 Reads

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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http://dx.doi.org/10.1210/er.2018-00248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736054PMC
October 2019
2 Reads

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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https://academic.oup.com/jcem/article/104/10/4304/5498036
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http://dx.doi.org/10.1210/jc.2019-00146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736049PMC
October 2019
7 Reads
6.209 Impact Factor

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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http://dx.doi.org/10.1093/hmg/ddz098DOI Listing
September 2019
2 Reads

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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http://dx.doi.org/10.1007/s10815-019-01468-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603098PMC
June 2019
4 Reads

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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http://dx.doi.org/10.1159/000497114DOI Listing
November 2019
31 Reads

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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http://dx.doi.org/10.1016/j.jacc.2018.12.062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588352PMC
March 2019
3 Reads

Why Do Normal Children Have Acromegalic Levels of IGF-I During Puberty?

J Clin Endocrinol Metab 2019 07;104(7):2770-2776

Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen Ø, Denmark.

Context: The rapid pubertal height growth is unique to humans, but why do we have it? Although the spurt contributes 13% to 15% to the final adult height, we hypothesized that the biological significance of the high acromegalic levels of GH and IGF-I, which are behind the pubertal growth spurt, might primarily occur to stimulate the reproductive organs.

Evidence Synthesis: Animal data have demonstrated that adult Igf1 and Igf2 gene knockout mice that survive show a dramatic reduction in the size of the reproductive organs and are infertile. In humans, case reports of mutations in the genes affecting the GH-IGF axis and growth (GH, GHRH, GH-R, STAT5b, IGF-I, IGF-II, IGF-1R, PAPPA2) are also characterized by delayed pubertal onset and micropenis. Read More

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http://dx.doi.org/10.1210/jc.2018-02099DOI Listing
July 2019
1 Read

Clinical Management of Congenital Hypogonadotropic Hypogonadism.

Endocr Rev 2019 04;40(2):669-710

Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.

The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic GnRH secretion, leading to delayed puberty and infertility. CHH can be associated with an absent sense of smell, also termed Kallmann syndrome, or with other anomalies. Read More

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https://academic.oup.com/edrv/article/40/2/669/5303368
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http://dx.doi.org/10.1210/er.2018-00116DOI Listing
April 2019
36 Reads
21.059 Impact Factor

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms.

Hormones (Athens) 2018 Dec 20;17(4):581-588. Epub 2018 Nov 20.

Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul University, Çapa 34093, Istanbul, Turkey.

Central precocious puberty (CPP) or early puberty (EP) is a rare entity in combined pituitary hormone deficiency (CPHD), the latter caused by mutations in pituitary transcription factor genes. The early onset of puberty in two patients with CPHD with POU1F1 gene mutation was evaluated. A 3-month-old boy was diagnosed with central hypothyroidism, and L-thyroxine was commenced. Read More

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http://dx.doi.org/10.1007/s42000-018-0079-4DOI Listing
December 2018
44 Reads

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
43 Reads

Investigation of treatment for azoospermia due to male hypogonadotropic hypogonadism in Japan.

Int J Urol 2019 01 9;26(1):134-135. Epub 2018 Oct 9.

Tanaka Growth Clinic, Tokyo, Japan.

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http://doi.wiley.com/10.1111/iju.13823
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http://dx.doi.org/10.1111/iju.13823DOI Listing
January 2019
7 Reads

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.

Exp Clin Endocrinol Diabetes 2019 Sep 14;127(8):538-544. Epub 2018 Sep 14.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified either as Kallmann syndrome (KS) with anosmia or normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and caused by mutations in more than 30 different genes. Recent advances in next-generation sequencing technologies have revolutionized the identification of causative genes by using massively parallel sequencing of multiple samples. This study was performed to establish the genetic etiology of IGD using a targeted gene panel sequencing of 69 known human IGD genes. Read More

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http://dx.doi.org/10.1055/a-0681-6608DOI Listing
September 2019
13 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
28 Reads
1.237 Impact Factor

Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.

J Clin Endocrinol Metab 2018 12;103(12):4482-4490

Paris Diderot University, Sorbonne Paris Cité, U1141, Inserm, Paris, France.

Context: Mutations in the kisspeptin receptor (KISS1R) gene have been reported in a few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).

Objectives: To describe a female patient with nCHH and a novel homozygous KISS1R mutation and to assess the role of kisspeptin pathway to induce an ovulation by GnRH pulse therapy.

Design, Setting, And Intervention: Observational study of a patient including genetic and kisspeptin receptor functions and treatment efficiency using a GnRH pump. Read More

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http://dx.doi.org/10.1210/jc.2018-00410DOI Listing
December 2018
11 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
9 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040515PMC
June 2018
10 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 25;90(5):337-343. 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
July 2019
46 Reads

Increased AIF-1-mediated TNF-α expression during implantation phase in IVF cycles with GnRH antagonist protocol.

Hum Reprod 2018 07;33(7):1270-1280

Reproductive Medical Center of Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, 197 Ruijin 2nd Road, Shanghai, China.

Study Question: Is allograft inflammatory factor-1 (AIF-1), a cytokine associated with inflammation and allograft rejection, aberrantly elevated in in vitro fertilization (IVF) cycles with gonadotropin-releasing hormone (GnRH) antagonist protocol with potential effects on endometrial receptivity?

Summary Answer: Our findings indicated AIF-1 is increased in IVF cycles with GnRH antagonist protocol and mediates greater TNF-α expression during implantation phase, which may be unfavorable for embryo implantation.

What Is Known Already: Studies have shown that GnRH antagonist protocol cycles have lower implantation and clinical pregnancy rates than GnRH agonist long protocol cycles. Endometrial receptivity but not embryo quality is a key factor contributing to this phenomenon; however, the mechanism is still unknown. Read More

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http://dx.doi.org/10.1093/humrep/dey119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6012176PMC
July 2018
24 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
12 Reads

Lower rate of early pregnancy loss in patients experiencing early-onset low LH in GnRH antagonist cycles supplemented with menotropin.

J Formos Med Assoc 2019 Jan 7;118(1 Pt 1):92-98. Epub 2018 May 7.

Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

Background/purpose: The role of LH during controlled ovarian stimulation (COS) in the general population remains contentious. There is no consensus on the indications for LH supplementation during COS. The purpose of this study is to determine whether menotropin supplement is associated with decreases in early pregnancy loss rates in patients exhibiting low endogenous LH during COS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09296646173072
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http://dx.doi.org/10.1016/j.jfma.2018.01.012DOI Listing
January 2019
25 Reads

Recombinant luteinizing hormone supplementation to recombinant follicle stimulating hormone therapy in gonadotropin releasing hormone analogue cycles: what is the evidence?

Curr Med Res Opin 2018 05 15;34(5):881-886. Epub 2018 Jan 15.

c Reproductive Medicine, Department of Obstetrics and Gynecology , Hadassah-Hebrew University Medical Center , Ein-Kerem , Jerusalem , Israel.

Objective: To look into current evidence exploring the added value of rLH supplementation to rFSH in GnRH analogues cycles, to identify groups of women that still have no evidence for adjuvant rLH therapy and to discuss ways that may advance research on this topic.

Methods: Eight systematic reviews and meta-analyses exploring the benefit for pregnancy achievement of rLH supplementation, excluding other LH activity preparations, to GnRH analogues cycles in the ART setting were thoroughly evaluated.

Results: Evidence exists to show that rLH supplementation seems to have added value for pregnancy achievement in women with poor ovarian response and in women ≥35 years of age employing the GnRH agonist protocol, while the evidence is still debatable when the GnRH antagonist is administered. Read More

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http://dx.doi.org/10.1080/03007995.2017.1417827DOI Listing
May 2018
10 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
34 Reads

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

Metabolism 2018 09 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
19 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
26 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
16 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
72 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
62 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
22 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534853PMC
June 2017
65 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
9 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
58 Reads
6.210 Impact Factor

Long-term endocrine outcome of suprasellar arachnoid cysts.

J Neurosurg Pediatr 2017 Jun 24;19(6):696-702. Epub 2017 Mar 24.

Division of Pediatric Neurosurgery.

OBJECTIVE Due to their distinct location, suprasellar arachnoid cysts are known to cause a wide variety of problems, such as hydrocephalus, endocrine symptoms, and visual abnormalities. The long-term outcome of these cysts has not been elucidated. To find out the long-term outcome of suprasellar arachnoid cysts, a retrospective review of the patients was performed. Read More

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http://dx.doi.org/10.3171/2017.1.PEDS16404DOI Listing
June 2017
42 Reads

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
71 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
39 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
59 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
28 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
14 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
33 Reads