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Hypogonadotropic hypogonadism

Michał Rabijewski
Hypogonadotropic hypogonadism (HH) is characterizes by infertility. In patients with congenital HH (CHH) is caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), and clinically is characterized by an absence of puberty and infertility. In patients with acquired HH (AHH) impaired fertility is the main symptom. An important diagnostic challenge is to distinguish CHH from constitutional delay of growth and puberty (CDGP). In patients with CHH after stimulation of puberty and in patients with AHH after diagnosis, hormonal stimulation of spermatogenesis is necessary...
September 21, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Ja Hye Kim, Go Hun Seo, Gu-Hwan Kim, Juyoung Huh, Il Tae Hwang, Ja-Hyun Jang, Han-Wook Yoo, Jin-Ho Choi
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...
September 14, 2018: Experimental and Clinical Endocrinology & Diabetes
Sophie Lamothe, Véronique Kerlan, Sophie Christin-Maitre
Sperm quality appears to be degrading over the past 40 years. Nowadays, more than 35 % of causes of male infertility are still idiopathic. More and more studies have suggested an impact of environment on sperm quality, essentially through epigenetic and hormonal changes. Recent studies in men with impaired sperm quality, have demonstrated epigenetic variations in sperm DNA. These modifications are responsible for modifications of the expression of transmissible genes to theiroffspring. Those transgenerational effects have been particularly illustrated in drosophila and caenorhabditis elegans...
September 2018: Annales D'endocrinologie
Kidmealem Zekarias, Rupendra T Shrestha
OBJECTIVE: Exercise Hypogonadal Male Condition (EHMC) is a well-recognized condition in women but much less understood in men. The aim of this case report is to highlight exercise induced hypogonadotropic hypogonadism in a male who recovered with lifestyle modifications. METHODS: We report a case of an adolescent male who developed hypogonadotropic hypogonadism secondary to excessive exercise and malnutrition that was followed up for a year without exogenous testosterone supplementation...
September 12, 2018: Medicine and Science in Sports and Exercise
Camila M Trevisan, Erik Montagna, Renato de Oliveira, Denise M Christofolini, Caio P Barbosa, Keith A Crandall, Bianca Bianco
Kisspeptin is involved in the control of human reproduction bridging the gap between the sex steroid levels and feedback mechanisms that control the gonadotropin releasing hormone (GnRH) secretion; however, studies considering this peptide and infertility are limited. We conducted a review and critical assessment of available evidence considering kisspeptin structure, physiology, function in puberty and reproduction, its role in assisted reproduction treatments, kisspeptin dosage and the impact on KISS1 and GPR54 genes...
September 11, 2018: Cellular Physiology and Biochemistry
Matt Prior, Jane Stewart, Kevin McEleny, Andrew A Dwyer, Richard Quinton
Men with hypogonadotropic hypogonadism (HH) are typically azoospermic, and yet HH is one of the few treatable forms of male infertility. Sperm induction protocols using gonadotrophins aim to replicate the natural endocrine control of spermatogenesis. Previously virilised men with adult-onset HH and normal testicular volume respond well to monotherapy in which human chorionic gonadotrophin (hCG) acts as a long-acting LH-analogue stimulating spermatogenesis. However, this approach is rarely successful for men with congenital HH (CHH) (e...
September 8, 2018: Clinical Endocrinology
Maya Michelle Kumar
Individuals with disordered eating commonly exclude salt and animal products from their diets, which may predispose them to iodine deficiency even without significant weight loss. Overconsumption of dietary supplements and "natural" foods are also commonly observed among eating disorder patients. This report describes an adolescent female with disordered eating presenting with growth and pubertal delay, found to have severe iodine deficiency (urine iodine of 18 mcg/L) and abnormal thyroid function resulting from strict avoidance of salt and animal products despite adequate caloric intake...
September 6, 2018: International Journal of Eating Disorders
S Ozler, E Isci Bostanci, E Oztas, M Kuru Pekcan, B Gumus Guler, N Yilmaz
PURPOSE: We aimed to determine the relation of a disintegrin and metalloproteinase with thrombospondin motifs-4 (ADAMTS4), and a disintegrin and metalloproteinase with thrombospondin motifs-9 (ADAMTS9) with cardiovascular disease (CVD) risk, in ovarian dysfunction patients with premature ovarian insufficiency (POI), and idiopathic hypogonadotropic hypogonadism (IHH). METHODS: 43 IHH and 44 POI patients were enrolled to this case-control study. Serum hormonal parameters, lipid profiles, ADAMTS4 and ADAMTS9 levels were measured...
September 5, 2018: Journal of Endocrinological Investigation
Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
Background: NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously...
2018: Frontiers in Genetics
Chiara Guzzetti, Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Emanuele Bellacchio, Anastasia Ibba, Letizia Casula, Antonio Novelli, Sandro Loche, Marco Cappa
BACKGROUND: The development of gonadotropin-independent (peripheral) precocious puberty in male children with primary adrenal insufficiency (PAI) is consistent with a defect in the genes encoding for the enzymes involved in steroid hormone biosynthesis. METHODS: Two young boys presented with peripheral precocious puberty followed by PAI. In both patients, the analysis of CYP21A2 gene encoding 21-hydroxylase was normal. As a second step, a targeted next-generation sequencing (NGS) was performed in both patients using a customized panel of congenital endocrine disor ders...
September 4, 2018: Hormone Research in Pædiatrics
Armin Alibegović
Hypogonadism in men results from the failure of the testes to produce physiological levels of testosterone and a normal number of spermatozoa due to a disruption of the hypothalamic-pituitary-testicular axis. An example of secondary hypogonadism as a result of anabolic steroid abuse is presented with the case report of a man who committed suicide after a history of aggressive behavior and physical abuse of his wife. The autopsy revealed shrunken testicles, with more than 30% of parenchymatous sclerosis, absent spermatogenesis, and very few Leydig cells detected only by immunohistochemistry...
September 3, 2018: Forensic Science, Medicine, and Pathology
Luo Yang, Heng-Shan Chen, Rui Qu, Si-Xiao Zhang
Idiopathic hypogonadotropic hypogonadism (IHH) is often caused by hyposecretion of gonadotropin and consequently affects male fertility. The patient with IHH has a smaller penis and testes with spermatogenic dysfunction. At present, IHH is treated mainly with hCG, hMG, GnRH, and their different combinations. However, due to the lack of large-sample evidence, it is not yet clear which therapy is the best option. This article presents an overview of our experience in the treatment of IHH in the last decade and a review of relevant literature, aiming at a deeper insight into this male disease...
August 2018: Zhonghua Nan Ke Xue, National Journal of Andrology
Neoklis A Georgopoulos, Anastasia K Armeni, Maria Stamou, Andromachi Kentrou, Evangelia Eirini Tsermpini, Gregoris Iconomou, Thomas Hyphantis, Konstantinos Assimakopoulos
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., anosmia, and HH is a type of GnRH deficiency known as Kallmann syndrome, which affects both men and women. The impact of Kallmann syndrome can be very severe and causes a variety of psychological problems in patients...
September 2018: Hormones: International Journal of Endocrinology and Metabolism
Ahmed Khattab, Carol Nelson-Williams, Vivienne Cabreza, Anne Macdonald, Erin Loring, Jeffrey Saland, Maria I New
Mutations in the gene NR0B1 have been associated with several clinical phenotypes of X-linked adrenal hypoplasia congenita (AHC). The degree and onset of adrenal insufficiency and involvement of hypogonadotropic hypogonadism is variable and may not be concordant with the identified mutation. We review a patient with AHC in which prenatal estriol levels were low, presenting with early-onset mineralocorticoid deficiency in the newborn period followed by glucocorticoid deficiency 2 years later. The reported child is hemizygous for a novel mutation that is deemed de novo in the ligand-binding site of the protein (DAX1) expressed by NR0B1...
August 21, 2018: Annals of the New York Academy of Sciences
Justine Hugon-Rodin, Keisuke Yoshii, Najiba Lahlou, Jennifer Flandrin, Anne Gompel, Nicolas de Roux
Context: Mutations in the kisspeptin receptor 1 gene (KISS1R) have been reported in a few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). Objectives: To describe a female with nCHH and a novel homozygous KISS1R mutation and to assess the role of kisspeptin pathway to induce an ovulation by gonadotropin-releasing hormone (GnRH) pulse therapy. Design, Setting and Intervention: Observational study of a patient including genetic, kisspeptin receptor functions and treatment efficiency using GnRH pump...
August 16, 2018: Journal of Clinical Endocrinology and Metabolism
Ines Jedidi, Mouna Ouchari, Qinan Yin
Human infertility, defined as the inability to conceive after 1 year of unprotected intercourse, is a healthcare problem that has a worldwide impact. Genetic causes of human infertility are manifold. In addition to the chromosomal aneuploidies and rearrangements, single-gene defects can interfere with human fertility. This paper provides a review of the most common autosomal recessive and autosomal dominant single-gene disorders involved in human infertility. The genes reviewed are CFTR , SPATA16 , AURKC , CATSPER1 , GNRHR , MTHFR , SYCP3 , SOX9 , WT1 and NR5A1 genes...
July 2018: Saudi Journal of Biological Sciences
Mert Ulaş Barut, Hakan Çoksüer, Sibel Sak, Murat Bozkurt, Elif Ağaçayak, Uğur Hamurcu, Didem Kurban, Süleyman Eserdağ
BACKGROUND Hypogonadotropic hypogonadism (HH), or secondary hypogonadism, results from reduced secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland, resulting in lack of production of sex steroids. The aim of this study was to evaluate self-reported sexual function in sexually active women with and without HH using two evaluation methods, the Female Sexual Function Index (FSFI) and the Beck Depression Inventory (BDI). MATERIAL AND METHODS The study recruited 88 women who attended an outpatient in vitro fertilization (IVF) clinic in Turkey for primary infertility, between August 2013 and August 2016...
August 12, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Chengming Zhou, Yonghua Niu, Hao Xu, Zongzhe Li, Tao Wang, Weimin Yang, Shaogang Wang, Dao Wen Wang, Jihong Liu
OBJECTIVE: To investigate the mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism (IHH) and discover new pathogenic genes that cause IHH. DESIGN: A gene panel, including 31 known IHH genes and 52 candidate genes, was used to perform semiconductor next-generation sequencing. SETTING: University hospital. PATIENTS: One hundred thirty-eight sporadic male IHH patients and 10 IHH families; 100 healthy men with normal fertility served as control subjects...
August 2018: Fertility and Sterility
Jyoti Aggarwal, Rajesh Satyapal Taneja, Pulin Kumar Gupta, Mohsin Wali, Anubhuti Chitkara, Afroz Jamal
Background: In human immunodeficiency virus (HIV)-infected men, hypogonadism is the most common endocrinological disorder, and most cases of hypogonadism are secondary. The aim of this study was to find out the hormonal abnormalities in HIV-infected males and it's correlation with CD4 cell counts. Materials and Methods: One hundred HIV-infected male patients were evaluated in the Department of Medicine, Postgraduate Institute of Medical Education and Research and Dr...
May 2018: Indian Journal of Endocrinology and Metabolism
Sasha R Howard, Leo Dunkel
Management of patients with hypogonadism is dependent on the underlying cause. Whilst functional hypogonadism presenting as delayed puberty in adolescence is relatively common, permanent hypogonadism presenting in infancy or adolescence is unusual. The main differential diagnoses of delayed puberty include self-limited delayed puberty (DP), idiopathic hypogonadotropic hypogonadism (IHH) and hypergonadotropic hypogonadism. Treatment of self-limited DP involves expectant observation or short courses of low dose sex steroid supplementation...
August 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
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