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Hypogonadism

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https://www.readbyqxmd.com/read/28334861/defective-signaling-through-plexin-a1-compromises-the-development-of-the-peripheral-olfactory-system-and-neuroendocrine-reproductive-axis-in-mice
#1
Séverine Marcos, Carine Monnier, Xavier Rovira Algans, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean-Pierre Hardelin
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. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333214/-forever-young-%C3%A2-testosterone-replacement-therapy-a-blockbuster-drug-despite-flabby-evidence-and-broken-promises
#2
Andrea Busnelli, Edgardo Somigliana, Paolo Vercellini
In the last decade, testosterone replacement therapy (TRT) has been increasingly prescribed to treat a controversial condition known as 'late-onset hypogonadism (LOH)'. This syndrome is diagnosed in men who, for no discernible reason other than older age, obesity or ill health have serum testosterone concentrations below the normal range for healthy young men and report one or more of the following symptoms: muscle weakness or wasting, mood, behaviour and cognition-related symptoms and sexual function or libido impairment...
February 23, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28332171/sport-and-male-sexuality
#3
REVIEW
P Sgrò, L Di Luigi
The relationships between sport and sexuality in males are of great social and clinical interest, because of sports and motor activities that highly promote social and sexual relationships. Even if few literature exist, two main questions should be taken into account: whether and how physical exercise and sport positively or negatively influence sexual health and behavior and/or whether and how sexual behavior may affect a sub-sequent sport performance. Physical exercise and sport per se can influence, positively or negatively, the hypothalamic-pituitary-testicular axis function and, consequently, the individual's reproductive and/or sexual health...
March 22, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28326739/a-case-of-pituitary-stalk-interruption-syndrome-with-intermittent-seizures-as-the-first-presentation
#4
(no author information available yet)
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99...
December 22, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28326187/a-novel-c-terminal-truncating-nr5a1-mutation-in-dizygotic-twins
#5
Atsushi Hattori, Hiroaki Zukeran, Maki Igarashi, Suzuka Toguchi, Yuji Toubaru, Takanobu Inoue, Yuko Katoh-Fukui, Maki Fukami
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28324103/harmonized-reference-ranges-for-circulating-testosterone-levels-in-men-of-four-cohort-studies-in-the-usa-and-europe
#6
Thomas G Travison, Hubert W Vesper, Eric Orwoll, Frederick Wu, Jean Marc Kaufman, Ying Wang, Bruno Lapauw, Tom Fiers, Alvin M Matsumoto, Shalender Bhasin
Background: Reference ranges for testosterone are essential for making a diagnosis of hypogonadism in men. Objective: To establish harmonized reference ranges for total testosterone in men that can be applied across laboratories by cross-calibrating cohort-specific assays to a reference method and standard. Population: 9054 community-dwelling men in cohort studies in the United States and Europe: Framingham Heart Study; European Male Aging Study; Osteoporotic Fractures in Men Study; Male Sibling Study of Osteoporosis...
January 10, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#7
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: GnRH neurons originate outside the central nervous system in the olfactory placode and migrate into the CNS, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to Idiopathic Hypogonadotropic Hypogonadism (IHH)/Kallmann Syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324034/anti-mullerian-hormone-and-ovarian-morphology-in-women-with-isolated-hypogonadotropic-hypogonadism-kallmann-syndrome-effects-of-recombinant-human-fsh
#8
Hélène Bry-Gauillard, Florence Larrat-Ledoux, Jean-Marc Levaillant, Nathalie Massin, Luigi Maione, Isabelle Beau, Nadine Binart, Philippe Chanson, Sylvie Brailly-Tabard, Janet E Hall, Jacques Young
Context: Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Mullerian hormone (AMH) and antral follicle count (AFC), have not been studied. Objectives: 1) Compare, in IHH versus controls, AMH, ovarian volume (OV) and AFC. 2) Compare in IHH, ovarian responses to recombinant human FSH (rhFSH) and rhFSH plus rhLH. Subjects: 68 IHH women, 51 matched healthy women...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323146/hypogonadal-men-with-type-2-diabetes-mellitus-have-smaller-bone-size-and-lower-bone-turnover
#9
Georgia Colleluori, Lina Aguirre, Richard Dorin, David Robbins, Dean Blevins, Yoann Barnouin, Rui Chen, Clifford Qualls, Dennis T Villareal, Reina Armamento-Villareal
INTRODUCTION: Both hypogonadism and type 2 diabetes mellitus (T2D) are associated with increased fracture risk. Emerging data support the negative effect of low testosterone on glucose metabolism, however, there is little information on the bone health of hypogonadal men with diabetes. We evaluated the bone mineral density (BMD), bone geometry and bone turnover of hypogonadal men with T2D compared to hypogonadal men without diabetes. MATERIALS AND METHODS: Cross-sectional study, men 40-74years old, with average morning testosterone (done twice) of<300ng/dl...
March 16, 2017: Bone
https://www.readbyqxmd.com/read/28322235/impact-of-tryptophan-depletion-on-executive-system-function-during-menopause-is-moderated-by-childhood-adversity
#10
Sheila Shanmugan, James Loughead, Wen Cao, Mary D Sammel, Theodore D Satterthwaite, Kosha Ruparel, Ruben C Gur, C Neill Epperson
Many healthy women with no history of cognitive dysfunction experience subjective executive difficulties during menopause. Preclinical literature suggests latent effects of early life adversity on serotonin function may play a role in this phenomenon. However, evidence in human participants regarding the mechanisms by which loss of estradiol contributes to this vulnerability is lacking. Here we examined the impact of tryptophan depletion (TD) and adverse childhood experiences (ACE) on brain activation during a working memory task in menopausal women...
March 21, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28320476/developing-and-evaluating-rare-disease-educational-materials-co-created-by-expert-clinicians-and-patients-the-paradigm-of-congenital-hypogonadotropic-hypogonadism
#11
Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A Dwyer
BACKGROUND: Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) and the olfacto-genital (Kallmann) syndrome (i.e., CHH and defective sense of smell), and to evaluate end-user acceptability. Expert clinicians, researchers and patients co-created the materials in a multi-step process...
March 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28318194/-craniopharyngioma-and-klinefelter-syndrome-during-the-pubertal-transition-a-diagnostic-challenge
#12
Yamile Mocarbel, Graciela Arébalo de Cross, Marie C Lebrethon, Albert Thiry, Albert Beckersd, Hernan Valdes-Socin
Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/109) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28315499/evaluation-of-the-decision-making-process-in-the-conservative-approach-to-small-testicular-masses
#13
Andrea Benelli, Virginia Varca, Lorenzo Derchi, Andrea Gregori, Giorgio Carmignani, Alchiede Simonato
INTRODUCTION: We evaluate the clinical outcome of patients treated with conservative approach for small testicular masses (STMs). We analyzed the steps who brought to the selection of the therapeutic approach: starting from clinical presentation, through imaging and lab studies. METHODS: We considered 18 patients who underwent an organ-sparing approach for STMs from 2005 until 2014. The selection criteria were dimension of the mass and absence of clinical, laboratory and/or radiological malignancy suspicion...
March 15, 2017: Urologia
https://www.readbyqxmd.com/read/28295504/testosterone-therapy-has-positive-effects-on-anthropometric-measures-metabolic-syndrome-components-obesity-lipid-profile-diabetes-mellitus-control-blood-indices-liver-enzymes-and-prostate-health-indicators-in-elderly-hypogonadal-men
#14
O Canguven, R A Talib, W El Ansari, D-J Yassin, M Salman, A Al-Ansari
To alleviate late-onset hypogonadism, testosterone treatment is offered to suitable patients. Although testosterone treatment is commonly given to late-onset hypogonadism patients, there remains uncertainty about the metabolic effects during follow-ups. We assessed the associations between testosterone treatment and wide range of characteristics that included hormonal, anthropometric, biochemical features. Patients received intramuscular 1,000 mg testosterone undecanoate for 1 year. Patient anthropometric measurements were undertaken at baseline and at each visit, and blood samples were drawn at each visit, prior to the next testosterone undecanoate...
March 10, 2017: Andrologia
https://www.readbyqxmd.com/read/28295450/efficacy-and-safety-of-testosterone-replacement-gel-for-treating-hypogonadism-in-men-phase-iii-open-label-studies
#15
L Belkoff, G Brock, D Carrara, A Neijber, M Ando, J Mitchel
Efficacy and safety of testosterone gel 2% (TG) were evaluated in two phase 3, open-labelled, single-arm, multicentre studies (000023 and extension study 000077). Hypogonadal men having serum testosterone levels <300 ng/dl at two consecutive measurements were included. Study duration was 9 months (000023: 3 months; 000077: 6 months). Starting dose of TG (46 mg) was applied on upper arm/shoulder. The primary endpoint (000023) was responder rate (subjects with average 24-hour serum testosterone concentration 300-1050 ng/dl on Day 90)...
March 10, 2017: Andrologia
https://www.readbyqxmd.com/read/28293259/influence-of-normo-and-hypogonadal-condition-hyperuricemia-and-high-fructose-diet-on-renal-changes-in-male-rats
#16
Jimena Soutelo, Yanina Alejandra Samaniego, Elsa Zotta, María Cecilia Fornari, Carlos Reyes Toso, Osvaldo Juan Ponzo
Background. There is a gender disparity in the incidence, prevalence, and progression of renal disease. The object of this paper is to evaluate the presence and type of renal lesion in normogonadic and hypogonadic male rats in a mild hyperuricemia induced condition and exposed to a high-fructose diet. Methods. 56 adult male Wistar rats were used. Animals were divided into two groups, one normogonadic (NGN) and one hypogonadic (HGN), and each group was divided into four subgroups in accordance with the treatment: control with only water (C), fructose (F), oxonic acid (OA), and fructose + oxonic acid (FOA)...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28292759/ovarian-function-s-role-during-cancer-cachexia-progression-in-the-female-mouse
#17
Kimbell L Hetzler, Justin P Hardee, Holly A LaVoie, E Angela Murphy, James A Carson
Cachexia is a debilitating condition that occurs with chronic disease including cancer; our research has shown that some regulation of cancer cachexia progression is affected by sex. The Apc(Min/+) mouse is genetically predisposed to develop intestinal tumors; interleukin-6 (IL-6) signaling and hypogonadism are associated with cachexia severity in the male. This relationship in the female warrants further investigation, as we have shown that the ability of IL-6 to induce cachexia differs between the sexes. Since ovarian reproductive function relies on a complex system of endocrine signaling to affect whole body homeostasis, we examined the relationship between ovarian reproductive function and the progression of cancer cachexia in the female Apc(Min/+) mouse...
March 14, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28288899/kisspeptin-10-treatment-generated-specific-gnrh-expression-in-cells-differentiated-from-rhesus-monkey-derived-lyon-nscs
#18
Tanzeel Huma, Xintian Hu, Yuanye Ma, Andrew Willden, Joshua Rizak, Muhammad Shahab, Zhengbo Wang
Embryonic stem cells (ESCs) have enormous potential as novel cell-based therapies, but their effectiveness depends on stem cell differentiation and specific signaling regulators, which remain poorly understood. In this study, a kisspeptin peptide (KP-10) was used at different dosages to determine whether rhesus macaque derived tau GFP-Lyon ES cells underwent kisspeptin specific neuronal differentiation. It was found that KP-10 exhibited an anti-proliferative effect on the cells and led to morphological changes and cellular differentiation consistent with neuronal stem cell (NSC) development...
March 10, 2017: Neuroscience
https://www.readbyqxmd.com/read/28286655/metabolic-endotoxaemia-related-inflammation-is-associated-with-hypogonadism-in-overweight-men
#19
Kelton Tremellen, Natalie McPhee, Karma Pearce
BACKGROUND: Obesity is associated with both impaired testosterone production and a chronic state of low grade inflammation. Previously it was believed that this inflammation was mediated by a decline in the immunosuppressive action of testosterone. However, more recently an alternative hypothesis (GELDING theory) has suggested that inflammation originating from the passage of intestinal bacteria into the circulation (metabolic endotoxaemia) may actually be the cause of impaired testicular function in obese men...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28286277/extent-of-resection-visual-and-endocrinological-outcomes-for-endoscopic-endonasal-surgery-for-recurrent-pituitary-adenomas
#20
Hyunwoo Do, Varun R Kshettry, Alan Siu, Irina Belinsky, Christopher J Farrell, Gurston Nyquist, Marc Rosen, James J Evans
OBJECTIVE: To assess outcomes after endoscopic endonasal surgery for recurrent or residual pituitary adenomas. METHODS: We retrospectively analyzed 61 patients from 2009 - 2016 that underwent endoscopic endonasal surgery for recurrent or residual pituitary adenomas after prior microscopic or endoscopic transphenoidal operation. RESULTS: Prior surgical approach was endoscopic endonasal in 55.7% and microscopic in 44.2%. The mean preoperative maximal tumor diameter was 2...
March 9, 2017: World Neurosurgery
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