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Hypogonadism

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https://www.readbyqxmd.com/read/28212592/novel-insights-into-gonadotropin-releasing-hormone-action-in-the-pituitary-gonadotrope
#1
Jessica L Brown, Mark Roberson
The hypothalamic-pituitary-gonadal axis controls reproduction via a series of hormones regulating gonadal function through interconnected feedback loops. Secretion of hypothalamic-derived gonadotropin-releasing hormone (GnRH) integrates inputs from higher brain centers to coordinate the activity of the pituitary gonadotrope and the biosynthesis and secretion of the gonadotropins which ultimately regulate gonadal function. Failure of GnRH to serve as the central integrator of this system has been associated with hypogonadotropic-hypogonadism and clinical infertility, while pharmacological application of GnRH analogs and gonadotropins have important implications of the treatment of such infertility...
February 17, 2017: Seminars in Reproductive Medicine
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#2
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28208556/re-importance-of-abdominal-circumference-and-body-mass-index-values-in-predicting-male-hypogonadism-a-practical-approach
#3
Allen D Seftel
No abstract text is available yet for this article.
March 2017: Journal of Urology
https://www.readbyqxmd.com/read/28208555/re-natural-history-risk-factors-and-clinical-features-of-primary-hypogonadism-in-ageing-men-longitudinal-data-from-the-european-male-ageing-study
#4
https://www.readbyqxmd.com/read/28202344/testosterone-replacement-therapy-and-components-of-the-metabolic-syndrome
#5
REVIEW
James Anaissie, Natalie H Roberts, Ping Wang, Faysal A Yafi
INTRODUCTION: The prevalence of metabolic syndrome (MetS) is rapidly increasing in the United States and, because of its strong association with male hypogonadism, has become a significant topic of interest in the sexual medicine community. At the center of this conversation is the efficacy and safety of testosterone replacement therapy (TRT) as a therapeutic option for HG and MetS. AIM: To provide a review of the current literature pertaining to TRT and MetS. METHODS: A thorough literature review was performed to review the relation between TRT and MetS using the PubMed online database from 1976 through 2016 with the keywords testosterone, hypogonadism, metabolic syndrome, and testosterone therapy...
February 12, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28201827/hypogonadotropic-hypogonadism-in-non-functioning-pituitary-adenomas-impact-of-intervention
#6
Diana Margarida Monteiro, Paula Freitas, Romana Vieira, Davide Carvalho
To determine the prevalence of hypogonadotropic hypogonadism (HH) among patients with non-functioning pituitary adenomas (NFPA) and the post-surgery outcome on pituitary gonadotropins secretion (PGS); to determine the prevalence of erectile dysfunction (ED) on male patients with NFPA, to evaluate the impact of testosterone replacement therapy (TRT) in those with HH. Retrospective evaluation of gonadal function in 109 NFPA patients (45 males), with a mean age of 51.8 years, diagnosed on the last 10 years. ED questionnaire applied to 34 male patients...
February 15, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28195315/genetic-testing-facilitates-prepubertal-diagnosis-of-congenital-hypogonadotropic-hypogonadism
#7
Cheng Xu, Mariarosaria Lang-Muritano, Franziska Phan-Hug, Andrew A Dwyer, Gerasimos P Sykiotis, Daniele Cassatella, James Acierno, Moosa Mohammadi, Nelly Pitteloud
Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by GnRH deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Hormonal testing at age 2.5 months showed low testosterone (0...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#8
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
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...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28192104/practical-use-of-pharmacotherapy-for-obesity
#9
Leon I Igel, Rekha B Kumar, Katherine H Saunders, Louis J Aronne
Obesity management requires a multidisciplinary approach, as there are many factors that contribute to the development of obesity as well as the preservation of excess weight once it has been gained. Diet, exercise and behavior modification are key components of treatment. In addition to lifestyle changes, weight gain secondary to medications is an important modifiable risk factor. Even after appropriate lifestyle modification, and medication adjustments (where possible) to avoid agents that can contribute to weight gain, many patients are still unable to achieve clinically meaningful weight loss...
February 9, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28185014/recent-advances-on-polyproline-ii
#10
REVIEW
Tarun Jairaj Narwani, Hubert Santuz, Nicolas Shinada, Akhila Melarkode Vattekatte, Yassine Ghouzam, Narayanasamy Srinivasan, Jean-Christophe Gelly, Alexandre G de Brevern
About half of the globular proteins are composed of regular secondary structures, α-helices, and β-sheets, while the rest are constituted of irregular secondary structures, such as turns or coil conformations. Other regular secondary structures are often ignored, despite their importance in biological processes. Among such structures, the polyproline II helix (PPII) has interesting behaviours. PPIIs are not usually associated with conventional stabilizing interactions, and recent studies have observed that PPIIs are more frequent than anticipated...
February 9, 2017: Amino Acids
https://www.readbyqxmd.com/read/28181337/deficiency-of-the-sphingosine-1-phosphate-lyase-sgpl1-is-associated-with-congenital-nephrotic-syndrome-and-congenital-adrenal-calcifications
#11
Andreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris Krainer, Lukas A Huber, Michael W Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer-Shafir, Rivka Sukenik-Halevy, Tania Zehavi, Annick Raas-Rothschild, Cungui Mao, Thomas Müller
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1...
February 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28161937/gonadal-and-sexual-dysfunction-in-childhood-cancer-survivors
#12
Ju Young Yoon, Hyeon Jin Park, Hee Young Ju, Jong Hyung Yoon, Jin Soo Chung, Sang Hyun Hwang, Dong Ock Lee, Hye Young Shim, Byung-Kiu Park
Purpose: Few studies have addressed gonadal and sexual dysfunctions in childhood cancer survivors. We evaluated the prevalence rates and risk factors for gonadal failure among adolescent/young adult childhood cancer survivors and their sexual function. Materials and Methods: Subjects were childhood cancer survivors aged 15-29 years who had completed therapy more than two years ago. Demographic and medical characteristics were obtained from the patients' medical records...
January 25, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28161405/neo-yoke-repair-for-severe-hypospadias-a-simple-modification-for-better-outcome
#13
Hamed M Seleim, Hani Morsi, Mohamed M Elbarbary
BACKGROUND: Although staged repair for reconstructing severe hypospadias is more popular, various one-stage repairs have been attempted. Koyanagi repair (parameatal-based and fully extended circumferential foreskin flap urethroplasty) has enabled correction of severe hypospadias in one stage. However, its un-acceptably high incidence of complications has initiated a series of technical modifications, including the "yoke" repair. OBJECTIVES: To retrospectively analyze the outcome of a proposed modification of the originally described yoke repair, for patients with severe hypospadias...
January 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28161084/erratum-to-clinical-characteristics-health-care-utilization-and-costs-among-men-with-primary-or-secondary-hypogonadism-in-a-us-commercially-insured-population
#14
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#15
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
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...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28158916/acute-recapitulation-of-the-hyperinsulinemia-and-hyperlipidemia-characteristic-of-metabolic-syndrome-suppresses-gonadotropins
#16
Justin Chosich, Andrew P Bradford, Amanda A Allshouse, Jane E B Reusch, Nanette Santoro, Irene E Schauer
OBJECTIVE: To determine the effect of lipid/heparin versus saline infusion, with or without concurrent euglycemic hyperinsulinemia, on serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Obesity is associated with hyperlipidemia, insulin resistance, and relative hypogonadotropic hypogonadism. It was hypothesized that acutely elevated fatty acids and insulin would impair gonadotropin secretion. METHODS: Regularly cycling women and men without obesity underwent a crossover 6-hour infusion study over four visits...
February 3, 2017: Obesity
https://www.readbyqxmd.com/read/28149506/treatment-of-hypogonadism-current-and-future-therapies
#17
REVIEW
Arthi Thirumalai, Kathryn E Berkseth, John K Amory
The treatment of hypogonadism in men is of great interest to both patients and providers. There are a number of testosterone formulations currently available and several additional formulations under development. In addition, there are some lesser-used alternative therapies for the management of male hypogonadism, which may have advantages for certain patient groups. The future of hypogonadism therapy may lie in the development of selective androgen receptor modulators that allow the benefits of androgens whilst minimizing unwanted side effects...
2017: F1000Research
https://www.readbyqxmd.com/read/28144446/genome-first-approach-diagnosed-cabezas-syndrome-via-novel-cul4b-mutation-detection
#18
Nobuhiko Okamoto, Miki Watanabe, Takuya Naruto, Keiko Matsuda, Tomohiro Kohmoto, Masako Saito, Kiyoshi Masuda, Issei Imoto
Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28141919/effect-of-corticosteroids-and-cyclophosphamide-on-sex-hormone-profiles-in-male-patients-with-systemic-lupus-erythematosus-and-systemic-sclerosis
#19
Laurent Arnaud, Annica Nordin, Hannes Lundholm, Elisabet Svenungsson, Erik Hellbacher, Johan Wikner, Agneta Zickert, Iva Gunnarsson
OBJECTIVE: Systemic Lupus Erythematosus (SLE) and Systemic Sclerosis (SSc) are predominantly female autoimmune diseases, therefore men are less well investigated. We analysed sex hormone levels in male patients with SLE and SSc comparatively to controls, in relation with use of corticosteroids and cyclophosphamide. METHODS: Sex hormone levels were measured from fasting blood samples in male patients with SLE (n=71), SSc (n=29) and compared to population-based age-matched male controls...
January 31, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28137855/amh-mis-as-a-contraceptive-that-protects-the-ovarian-reserve-during-chemotherapy
#20
Motohiro Kano, Amanda E Sosulski, LiHua Zhang, Hatice D Saatcioglu, Dan Wang, Nicholas Nagykery, Mary E Sabatini, Guangping Gao, Patricia K Donahoe, David Pépin
The ovarian reserve represents the stock of quiescent primordial follicles in the ovary which is gradually depleted during a woman's reproductive lifespan, resulting in menopause. Müllerian inhibiting substance (MIS) (or anti-Müllerian hormone/AMH), which is produced by granulosa cells of growing follicles, has been proposed as a negative regulator of primordial follicle activation. Here we show that long-term parenteral administration of superphysiological doses of MIS, using either an adeno-associated virus serotype 9 (AAV9) gene therapy vector or recombinant protein, resulted in a complete arrest of folliculogenesis in mice...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
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