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male primary hypogonadism

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https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#1
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28869721/the-utility-and-feasibility-of-assessing-sleep-disruption-in-a-men-s-health-clinic-using-a-mobile-health-platform-device-a-pilot-study
#2
Hai H Le, Rachel Marie E Salas, Alyssa Gamaldo, Kevin L Billups, Peter Dziedzic, Seulah Choi, Neftali Bermudez, Roland J Thorpe, Charlene E Gamaldo
INTRODUCTION: Evidence linking sleep disruption and sexual dysfunction in men is mounting; yet the characterisation of sleep patterns and complaints utilising a clinically feasible method within this patient population remain largely under-reported. AIM: A pilot study aiming to demonstrate a clinically feasible method to characterise the sleep patterns and complaints in a representative sample of patients treated in a men's health clinic. METHODS: Male patients (n = 48) completed a battery of validated sleep questionnaires using an mHealth mobile platform, MySleepScript, at the Johns Hopkins Men's Health and Vitality Center...
September 4, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28648620/iron-overload-induces-hypogonadism-in-male-mice-via-extrahypothalamic-mechanisms
#3
Chiara Macchi, Liliana Steffani, Roberto Oleari, Antonella Lettieri, Luca Valenti, Paola Dongiovanni, Antonio Romero-Ruiz, Manuel Tena-Sempere, Anna Cariboni, Paolo Magni, Massimiliano Ruscica
INTRODUCTION: Iron overload leads to multiple organ damage including endocrine organ dysfunctions. Hypogonadism is the most common non-diabetic endocrinopathy in primary and secondary iron overload syndromes. AIM: To explore the molecular determinants of iron overload-induced hypogonadism with specific focus on hypothalamic derangements. A dysmetabolic male murine model fed iron-enriched diet (IED) and cell-based models of gonadotropin-releasing hormone (GnRH) neurons were used...
October 15, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28613046/anti-mullerian-hormone-amh-determinations-in-the-pediatric-and-adolescent-endocrine-practice
#4
Amir Weintraub, Talia Eldar-Geva
Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28579862/assessment-of-hypogonadism-in-men-with-type-2-diabetes-a-cross-sectional-study-from-saudi-arabia
#5
Ayman Abdullah Al Hayek, Asirvatham Alwin Robert, Ghazi Alshammari, Husain Hakami, Mohamed Abdulaziz Al Dawish
BACKGROUND/OBJECTIVES: A high incidence of hypogonadism in men with type 2 diabetes (T2D) has been globally reported. This study aimed to determining the frequency of hypogonadism and related risk factors among men with T2D in a single-site hospital in Saudi Arabia. DESIGN AND METHODS: A cross-sectional study was performed on 157 men with T2D (between 30 and 70 years of age). Using a prestructured questionnaire, the demographic features of these patients were gathered and their medical records were referred to gather information regarding the duration of the diabetes, smoking habits, and the presence of retinopathy, neuropathy, and nephropathy...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28551925/-clinical-characteristics-of-male-patients-with-osteoporosis-referred-to-the-endocrine-clinic-of-a-tertiary-hospital
#6
Gloria Tsvetov, Ilana Shraga-Slutzky, Dania Hirsch, Hiba Masri, Tzippy Shohat, Alexander Gorshtein, Ilan Shimon
INTRODUCTION: Osteoporosis in men is underdiagnosed and undertreated. The prevalence of male osteoporosis increases with age and it becomes a significant public health burden. Currently, there are a few clinical studies on male osteoporosis with limited knowledge of effective therapeutic options. AIMS: Our study aimed to characterize men with osteoporosis in a referral metabolic clinic in Rabin Medical Center at the Beilinson Campus. METHODS: In this study we retrospectively analyzed the medical records of 270 consecutive male patients with osteoporosis diagnosed and treated in our clinic during 2013...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28493439/very-late-presentation-of-a-disorder-of-sex-development
#7
J M Martins, M Fraga, J Miguens, F Tortosa, B Marques, A D Sousa
Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life span, despite infertility and long-standing primary gonadic failure may lead to uncommon complications...
May 11, 2017: Andrologia
https://www.readbyqxmd.com/read/28434676/meta-analysis-of-results-of-testosterone-therapy-on-sexual-function-based-on-international-index-of-erectile-function-scores
#8
Giovanni Corona, Giulia Rastrelli, Abraham Morgentaler, Alessandra Sforza, Edoardo Mannucci, Mario Maggi
CONTEXT: The interpretation of available clinical evidence related to the effect of testosterone (T) treatment (TTh) on sexual function has been inconsistent, in part due to the use of different and self-reported measures to assess outcomes. The International Index of Erectile Function (IIEF) is the most frequently used validated tool to assess male sexual function. OBJECTIVE: To perform a meta-analysis of available data evaluating the effect of TTh on male sexual function using IIEF as the primary outcome...
April 20, 2017: European Urology
https://www.readbyqxmd.com/read/28409903/primary-secondary-and-compensated-hypogonadism-a-novel-risk-stratification-for-infertile-men
#9
E Ventimiglia, S Ippolito, P Capogrosso, F Pederzoli, W Cazzaniga, L Boeri, I Cavarretta, M Alfano, P Viganò, F Montorsi, A Salonia
Recently, the cohort of men from the European Male Ageing Study has been stratified into different categories distinguishing primary, secondary and compensated hypogonadism. A similar classification has not yet been applied to the infertile population. We performed a cross-sectional study enrolling 786 consecutive Caucasian-European infertile men segregated into eugonadal [normal serum total testosterone (≥3.03 ng/mL) and normal luteinizing hormone (≤9.4 mU/mL)], secondary (low total testosterone, low/normal luteinizing hormone), primary (low total testosterone, elevated luteinizing hormone) and compensated hypogonadism (normal total testosterone; elevated luteinizing hormone)...
May 2017: Andrology
https://www.readbyqxmd.com/read/28408926/male-hypogonadism-and-osteoporosis-the-effects-clinical-consequences-and-treatment-of-testosterone-deficiency-in-bone-health
#10
REVIEW
Gary Golds, Devon Houdek, Terra Arnason
It is well recognized that bone loss accelerates in hypogonadal states, with female menopause being the classic example of sex hormones affecting the regulation of bone metabolism. Underrepresented is our knowledge of the clinical and metabolic consequences of overt male hypogonadism, as well as the more subtle age-related decline in testosterone on bone quality. While menopause and estrogen deficiency are well-known risk factors for osteoporosis in women, the effects of age-related testosterone decline in men on bone health are less well known...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28368486/pulsatile-gnrh-therapy-may-restore-hypothalamus-pituitary-testis-axis-function-in-patients-with-congenital-combined-pituitary-hormone-deficiency-a-prospective-self-controlled-trial
#11
Junjie Zheng, Jiangfeng Mao, Hongli Xu, Xi Wang, Bingkun Huang, Zhaoxiang Liu, Mingxuan Cui, Shuyu Xiong, Wanlu Ma, Le Min, Ursula B Kaiser, Min Nie, Xueyan Wu
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...
July 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28361003/case-report-primary-osteonecrosis-associated-with-thrombophilia-hypofibrinolysis-and-worsened-by-testosterone-therapy
#12
Michael Ian Jarman, Kevin Lee, Ariel Kanevsky, Sarah Min, Ilana Schlam, Chris Mahida, Ali Huda, Alexander Milgrom, Naila Goldenberg, Charles J Glueck, Ping Wang
BACKGROUND: Familial and acquired thrombophilia are often etiologic for idiopathic hip and jaw osteonecrosis (ON), and testosterone therapy (TT) can interact with thrombophilia, worsening ON. CASE PRESENTATION: Case 1: A 62-year-old Caucasian male (previous deep venous thrombosis), on warfarin 1 year for atrial fibrillation (AF), had non-specific right hip-abdominal pain for 2 years. CT scan revealed bilateral femoral head ON without collapse. Coagulation studies revealed Factor V Leiden (FVL) heterozygosity, 4G/4G plasminogen activator inhibitor (PAI) homozygosity, high anti-cardiolipin (ACLA) IgM antibodies, and endothelial nitric oxide (NO) synthase (eNOS) T786C homozygosity (reduced conversion of L-arginine to NO, required for bone health)...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28355719/-a-clinical-analysis-of-123-cases-of-primary-empty-sella
#13
J Li, H W Jia, C L Wang, R Zhang, M Y Qu, W Li, M H Yuan, J Cui, Q He, H Y Wei, T H Zhu, Z S Ma, W Liu, Z L Dong, Z G Gao
Objective: This study was conducted to analyze the clinical characteristics and pituitary function of patients with primary empty sella (PES). Methods: The clinical data from 123 hospitalized adult patients with PES from January 2010 to May 2016 were retrospectively studied. Results: (1) The average age of the 123 (male 43, female 80) PES patients was (59.2±13.6) years (ranging 24-92 years), among whom 61% patients were in the age group between 50-69 years. (2) The symptoms of the patients included fatigue (56...
April 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28318194/-craniopharyngioma-and-klinefelter-syndrome-during-the-pubertal-transition-a-diagnostic-challenge
#14
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/28225313/efficacy-and-safety-of-a-new-topical-testosterone-replacement-gel-therapy-for-the-treatment-of-male-hypogonadism
#15
MULTICENTER STUDY
Glenn Cunningham, Laurence Belkoff, Gerald Brock, Mitchell Efros, Marc Gittelman, Dario Carrara, Anders Neijber, Masakazu Ando, Jules Mitchel
OBJECTIVE: Testosterone replacement therapy is indicated for male hypogonadism. This study aimed to evaluate the efficacy and safety of testosterone gel 2% (Tgel) over 90 days. METHODS: This phase 3, open-label, noncomparator study was conducted in adult hypogonadal men (2 consecutive fasting serum testosterone values <300 ng/dL and >86% subjects with symptoms consistent with testosterone deficiency). Subjects applied Tgel 23 mg/day (single pump-actuation using a hands-free cap applicator)...
May 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28217586/occult-endocrine-dysfunction-in-patients-with-cirrhosis-of-liver
#16
K V S Hari Kumar, A K Pawah, Manish Manrai
BACKGROUND: Liver dysfunction leads to endocrine disturbance due to the alteration in protein metabolism or synthesis. We studied the presence of occult endocrine dysfunction in liver cirrhosis and compared the same with underlying etiology. MATERIALS AND METHODS: We evaluated thirty patients with liver cirrhosis in this cross-sectional, observational study. All subjects were assessed for pituitary, thyroid, adrenal, and gonadal function. The patients were divided into Group 1 (cirrhosis, n = 30) and Group 2 (controls, n = 15) and the data were analyzed with appropriate statistical tests...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28217500/a-study-to-evaluate-the-prevalence-of-hypogonadism-in-indian-males-with-type-2-diabetes-mellitus
#17
Pankaj Kumar Agarwal, Parminder Singh, Subhankar Chowdhury, S K Sharma, Anirban Majumdar, Parag Shah, Rakesh Sahay, S Vageesh Ayyar, Hemant Phatale, Chandar M Batra, Raeesuddin Syed, Pradeep Shetty
BACKGROUND: A high prevalence of hypogonadism in men with Type-2 diabetes mellitus (T2DM) has been reported worldwide. OBJECTIVES: To evaluate the prevalence of hypogonadism in Indian males with T2DM and assess the primary and secondary hypogonadism along with androgen deficiency. MATERIALS AND METHODS: In this cross-sectional study, 900 men with T2DM were evaluated using androgen deficiency in aging male questionnaire. They were screened for demographic characteristics, gonadal hormone levels, lipid profile, and glycosylated hemoglobin...
January 2017: Indian Journal of Endocrinology and Metabolism
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
#18
https://www.readbyqxmd.com/read/28137855/amh-mis-as-a-contraceptive-that-protects-the-ovarian-reserve-during-chemotherapy
#19
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...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28067604/central-hypogonadism-due-to-a-giant-silent-fsh-secreting-atypical-pituitary-adenoma-effects-of-adenoma-dissection-and-short-term-leydig-cell-stimulation-by-luteinizing-hormone-lh-and-human-chorionic-gonadotropin-hcg
#20
Daniele Santi, Giorgia Spaggiari, Livio Casarini, Flaminia Fanelli, Marco Mezzullo, Uberto Pagotto, Antonio R M Granata, Cesare Carani, Manuela Simoni
We present a case report of an atypical giant pituitary adenoma secreting follicle-stimulating hormone (FSH). A 55-year-old patient presented for erectile dysfunction, loss of libido and fatigue. The biochemical evaluation showed very high FSH serum levels in the presence of central hypogonadism. Neither testicular enlargement nor increased sperm count was observed, thus a secretion of FSH with reduced biological activity was supposed. The histological examination after neuro-surgery showed an atypical pituitary adenoma with FSH-positive cells...
June 2017: Aging Male: the Official Journal of the International Society for the Study of the Aging Male
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