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Male hypogonadism

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https://www.readbyqxmd.com/read/29451226/final-adult-height-and-endocrine-complications-in-young-adults-with-%C3%AE-thalassemia-major-tm-who-received-oral-iron-chelation-oic-in-comparison-with-those-who-did-not-use-oic
#1
Ashraf T Soliman, Mohamed A Yassin, Vincenzo De Sanctis
BACKGROUND: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy in β-thalassemia major patients (TM) on treatment with deferasirox. AIMS OF THE STUDY: To study the frequency of endocrine complications, IGF-1 levels and final adult standing height (FA-Ht) in patients with BTM in two groups of adult patients. PATIENTS AND METHODS: The first group (Group A; 15 patients, 6 females and 9 males) received oral iron chelation therapy (OIC) with deferasirox for 6 years before puberty; the second group (Group B;40 patients) attained the FA-Ht before the use of OIC (iron chelation therapy with deferoxamine (DFO) given subcutaneously, since the age of 2 years)...
February 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29451224/hypogonadism-in-male-thalassemia-major-patients-pathophysiology-diagnosis-and-treatment
#2
Vincenzo De Sanctis, Ashraf T Soliman, Mohamed A Yassin, Salvatore Di Maio, Shahina Daar, Heba Elsedfy, Nada Soliman, Christos Kattamis
Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are frequent and well recognized disturbances among male patients with transfusion dependent (TD) thalassaemia major (β-thal). These problems are attributed mainly to the damage caused by chronic anaemia and the deposition of excess iron in the pituitary gland and testicles. This is a short review of male pubertal disorders in patients with β-thal written by pediatric endocrinologists and haematologists with an interest and active involvement, in the diagnosis and management of these complications in this group of patients...
February 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29446975/primary-adrenal-insufficiency-due-to-hereditary-apolipoprotein-ai-amyloidosis-endocrine-involvement-beyond-hypogonadism
#3
Adriana Pané, Sabina Ruiz, Aida Orois, Daniel Martínez, Mattia Squarcia, Lydia Sastre, Pablo Ruiz, Joan Caballería, Mireia Mora, Felicia A Hanzu, Irene Halperin
Several mutations in the gene encoding apolipoprotein AI (apoAI) have been described as a cause of familial amyloidosis. Individuals with apoAI-derived (AApoAI) amyloidosis frequently manifest with liver, kidney, laryngeal, skin and myocardial involvement. Although primary hypogonadism (PH) is considered almost pathognomonic of this disease, until now, primary adrenal insufficiency (PAI) has not been described as a common clinical feature. Here, we report the first kindred with AApoAI amyloidosis in which PAI is well-documented...
February 15, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/29423028/increased-risk-of-testis-failure-in-testicular-germ-cell-tumor-survivors-undergoing-radiotherapy
#4
Marco Ghezzi, Luca De Toni, Pierfrancesco Palego, Massimo Menegazzo, Elisa Faggian, Massimiliano Berretta, Francesco Fiorica, Maurizio De Rocco Ponce, Carlo Foresta, Andrea Garolla
Testicular germ cell tumors (TGCTs) are prevalent in males of reproductive age. Among the available therapeutic choices, pelvic radiotherapy (RT) and simple surveillance (SURV) are usually pursued. However, RT is considered to have life-threatening effects on testicular functions. In this study we sought to clarify this issue by evaluating sperm parameters and sex hormones in 131 TGCTs RT-treated-patients at both baseline (T0) and 12 (T1) and 24 months (T2) of follow-up. An age-matched group of 61 SURV patients served as control...
January 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29409041/the-endocrine-and-metabolic-characteristics-of-a-large-bardet-biedl-syndrome-clinic-population
#5
Safa Mujahid, Katharine F Hunt, Yee S Cheah, Elizabeth Forsythe, Jonathan M Hazlehurst, Kathryn Sparks, Shehla Mohammed, Jeremy W Tomlinson, Stephanie A Amiel, Paul V Carroll, Phillip L Beales, Mohammed S B Huda, Barbara M McGowan
Context: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome. Objective: Describe the endocrine and metabolic characteristics of a large BBS population compared with matched controls. Design: Case-control. Setting: Hospital clinic. Patients: A clinical/genetic diagnosis of BBS. Intervention: None...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29396841/metabolic-phenotype-of-male-obesity-related-secondary-hypogonadism-pre-replacement-and-post-replacement-therapy-with-intra-muscular-testosterone-undecanoate-therapy
#6
Georgios K Dimitriadis, Harpal S Randeva, Saboor Aftab, Asad Ali, John G Hattersley, Sarojini Pandey, Dimitris K Grammatopoulos, Georgios Valsamakis, Georgios Mastorakos, T Hugh Jones, Thomas M Barber
AIM: To explore the metabolic phenotype of obesity-related secondary hypogonadism (SH) in men pre-replacement and post-replacement therapy with long-acting intramuscular (IM) testosterone undecanoate (TU). METHODS: A prospective observational pilot study on metabolic effects of TU IM in male obesity-related SH (hypogonadal [HG] group, n = 13), including baseline comparisons with controls (eugonadal [EG] group, n = 15). Half the subjects (n = 7 in each group) had type 2 diabetes mellitus (T2D)...
February 2, 2018: Endocrine
https://www.readbyqxmd.com/read/29392618/rapid-recovery-of-hypogonadism-in-male-patients-with-end-stage-renal-disease-after-renal-transplantation
#7
W Reinhardt, H Kübber, S Dolff, S Benson, D Führer, S Tan
PURPOSE: End stage renal disease (ESRD) in male patients is associated with a high prevalence of hypogonadism. After renal transplantation (RTx) an improvement in gonadal function is often observed. However, the time course of changes in pituitary-gonadal axis after RTx and the influence of renal function, age and anthropometric parameters are not well characterized. We prospectively evaluated pituitary-gonadal axis in male patients with ESRD before and after RTx for up to 1 year. METHODS: Ninety-seven male patients with ESRD were consecutively investigated on day of surgery and 1, 3, 6, and 12 months after RTx...
February 1, 2018: Endocrine
https://www.readbyqxmd.com/read/29386237/the-androgen-receptor-in-bone-marrow-progenitor-cells-negatively-regulates-fat-mass
#8
Patricia K Russell, Salvatore Mangiafico, Barbara Fam, Michele Verity Clarke, Evelyn S Marin, Sof Andrikopoulos, Kristine M Wiren, Jeffrey David Zajac, Rachel A Davey
It is well established that testosterone negatively regulates fat mass in humans and mice, however the mechanism by which testosterone exerts these effects is poorly understood. We and others have shown that deletion of the androgen receptor (AR) in male mice results in a phenotype that mimics the three key clinical aspects of hypogonadism in human males; increased fat mass, and decreased bone and muscle mass. We now show that replacement of the AR gene specifically in mesenchymal progenitor cells (PCs) residing in the bone marrow of Global-ARKO mice, in the absence of the AR in all other tissues (PC-AR Gene Replacements), completely attenuates their increased fat accumulation...
January 31, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29382506/klinefelter-syndrome-more-than-hypogonadism
#9
REVIEW
George A Kanakis, Eberhard Nieschlag
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and >70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing...
January 27, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29380951/effects-of-short-term-sex-steroid-suppression-on-dietary-fat-storage-patterns-in-healthy-males
#10
Corey A Rynders, Stacy L Schmidt, Audrey Bergouignan, Tracy J Horton, Daniel H Bessesen
Hypogonadism in males is associated with increased body fat and altered postprandial metabolism, but mechanisms remain poorly understood. Using a cross-over study design, we investigated the effects of short-term sex hormone suppression with or without testosterone add-back on postprandial metabolism and the fate of dietary fat. Eleven healthy males (age: 29 ± 4.5 year; BMI: 26.3 ± 2.1 kg/m2 ) completed two 7-day study phases during which hormone levels were altered pharmacologically to produce a low sex hormone condition (gonadotropin releasing hormone antagonist, aromatase inhibitor, and placebo gel) or a testosterone add-back condition (testosterone gel)...
January 2018: Physiological Reports
https://www.readbyqxmd.com/read/29380696/kisspeptin-and-its-effect-on-mammalian-spermatogensis
#11
Tao Feng, Jiahua Bai, Xiaoling Xu, Yan Liu
Kisspeptin and its receptor, GPR54, are regarded as key regulators of and catalysts for male puberty onset, and also fundamental gatekeepers of spermatogenesis in mammals. Consequently, the loss function of kisspeptin or GPR54 leads to a symptom of hypogonadotropic hypogonadism (HH) in human and HH accompanied by lower gonadotrophic hormone levels, smaller testes, impaired spermatogenesis and abnormal sexual maturation in mice. Besides its well- recognized functions in hypothalamus before and during puberty, accumulating data strongly support kisspeptin production in tests, and participation in somatic and germ cell development and sperm functions as well...
January 28, 2018: Current Drug Metabolism
https://www.readbyqxmd.com/read/29373985/reversal-of-end-stage-heart-failure-in-juvenile-hemochromatosis-with-iron-chelation-therapy-a-case-report
#12
Shamil D Cooray, Neel M Heerasing, Laura A Selkrig, V Nathan Subramaniam, P Shane Hamblin, Cameron J McDonald, Catriona A McLean, Elissa McNamara, Angeline S Leet, Stuart K Roberts
BACKGROUND: Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. CASE PRESENTATION: A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocardial biopsy revealed cytoplasmic iron deposits in myocytes. His condition was stabilized with biventricular assist devices and he was listed for heart transplantation...
January 26, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29371337/endocrine-and-metabolic-evaluation-of-classic-klinefelter-syndrome-and-high-grade-aneuploidies-of-sexual-chromosomes-with-male-phenotype-are-they-different-clinical-conditions
#13
Matteo Spaziani, Mileno Benedetta, Fabio Rossi, Simona Granato, Natascia Tahani, Antonella Anzuini, Andrea Lenzi, Antonio F Radicioni
OBJECTIVE: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study was to investigate the endocrinal and metabolic differences between KS and HGAs. DESIGN: Cross-sectional, case-control study. METHODS: 88 patients with KS, 24 with an HGA and 60 healthy controls...
January 25, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29371155/sox2-not-always-eye-malformations-severe-genital-but-no-major-ocular-anomalies-in-a-female-patient-with-the-recurrent-c-70del20-variant
#14
Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina, Orsetta Zuffardi
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c...
January 22, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29371140/the-relationship-between-shift-work-and-men-s-health
#15
REVIEW
Nanfu Deng, Taylor P Kohn, Larry I Lipshultz, Alexander W Pastuszak
BACKGROUND: More than 21 million Americans and nearly 20% of the U.S. workforce are shift workers. Non-standard shift work, defined as work that falls outside of 6 am-6 pm, can lead to poor diet, exercise, and sleep habits that lead to decreased productivity, increased workplace accidents, and a variety of negative health outcomes. AIM: To investigate the associations between shift work exposure and chronic medical conditions such as metabolic syndromes, cardiovascular disease, gastrointestinal disturbances, and depression as well as urologic complications including hypogonadism, male infertility, lower urinary tract symptoms, and prostate cancer with a focus on the effects of shift work sleep disorder (SWSD) on the severity of these negative health outcomes...
January 19, 2018: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/29365335/screening-for-hypogonadism-in-primary-healthcare-how-to-do-this-effectively
#16
Mark Livingston, Richard Jones, Geoff Hackett, Gemma Donnahey, Gabriela Yc Moreno, Christopher J Duff, Adrian H Heald
BACKGROUND: Testosterone, the most important androgen produced by the testes, plays an integral role in male health. Testosterone levels are increasingly being checked in primary healthcare as awareness of the risks of male hypogonadism grows. AIM: To investigate what tests are performed to screen for hypogonadism and to exclude secondary hypogonadism. DESIGN AND SETTING: All participants attended general practices in the UK. METHODS: Data search was performed using the EMIS®: clinical database (provider of the majority of GP operating systems in Cheshire)...
January 24, 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29359516/seminal-sirt1-expression-in-infertile-oligoasthenoteratozoospermic-men-with-varicocoele
#17
T Mostafa, N Nabil, L Rashed, K Makeen, M A El-Kasas, H A Mohamaed
In a case-controlled study, we assessed the expressed seminal NAD-dependent protein deacetylase (SIRT1) expression in infertile oligoasthenoteratozoospermic (OAT) men associated with varicocoele. Our study involved 81 men, recruited from the University hospitals, after ethical approval and informed consent. They were allocated into fertile normozoospermic men (n = 23), infertile OAT men without varicocoele (n = 23) and infertile OAT men with varicocoele (n = 35). Inclusion criteria consisted of confirmation of abnormal semen parameters and normal female partners whereas exclusion criteria were leukocytospermia, tobacco smoking, hormonal therapy, immunological disorders, dyslipidemia, hypogonadism, cardiovascular disorders, morbid obesity, and hepatic or renal failures...
January 22, 2018: Andrology
https://www.readbyqxmd.com/read/29356023/biochemical-evaluation-of-male-androgen-status-beyond-total-testosterone
#18
Mathis Grossmann
Male hypogonadism is a clinical diagnosis confirmed by consistent biochemical findings. Clinical guidelines agree that the initial diagnostic test to confirm clinically suspected androgen deficiency should be a fasting morning total testosterone concentration by a reliable assay. They also agree that a diagnosis of androgen deficiency should only be made in men with consistent symptoms and signs, and unequivocally and repeatedly low serum testosterone concentrations. This article is protected by copyright. All rights reserved...
January 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29353265/growth-sexual-and-bone-development-in-a-boy-with-bilateral-anorchia-under-testosterone-treatment-guided-by-the-development-of-his-monozygotic-twin
#19
Sara Vandewalle, Eva Van Caenegem, Margarita Craen, Youri Taes, Jean-Marc Kaufman, Guy T'Sjoen
BACKGROUND: Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism. CASE PRESENTATION: A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29340121/complications-of-transfusion-dependent-%C3%AE-thalassemia-patients-in-sistan-and-baluchistan-south-east-of-iran
#20
Maryam Yaghobi, Ebrahim Miri-Moghaddam, Naderi Majid, Ali Bazi, Ali Navidian, Asiyeh Kalkali
Background: Thalassemia syndromes are among prevalent hereditary disorders imposing high expenses on health-care system worldwide and in Iran. Organ failure represents a life-threatening challenge in transfusion- dependent β-thalassemia (TDT) patients. The purpose of the present study was to determine the frequency of organ dysfunctions among TDT patients in Sistan and Baluchistan province in South-East of Iran. Materials and Methods: Laboratory and clinical data were extracted from medical records as well as by interviews...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
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