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Hypogonadism

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https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#1
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777228/effects-of-clomiphene-citrate-on-male-obesity-associated-hypogonadism-a-randomized-double-blind-placebo-controlled-study
#2
Andressa Heimbecher Soares, Nidia Celeste Horie, Lucas Augusto Piccinin Chiang, Bruno Caramelli, Mariana Gomes Matheus, Alexandre Holthausen Campos, Luciana Cavalheiro Marti, Fernanda Agostini Rocha, Marcio C Mancini, Elaine Maria Frade Costa, Cintia Cercato
BACKGROUND: Obesity causes secondary hypogonadism (HG) in men. Standard testosterone (T) replacement therapy improves metabolic parameters but leads to infertility. OBJECTIVE: To evaluate clomiphene citrate (CC) treatment of adult men with male obesity-associated secondary hypogonadism (MOSH). DESIGN: Single-center, randomized, double-blind, placebo-controlled trial. PARTICIPANTS: Seventy-eight men aged 36.5 ± 7...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29774795/prospective-evaluation-of-hypogonadism-in-male-metastatic-renal-cell-carcinoma-patients-treated-with-targeted-therapies
#3
Julie Bastin, Emilie Werbrouck, Annelies Verbiest, Kevin Punie, Oliver Bechter, Sherida Feng Woei-A-Jin, Pascal Wolter, Hans Wildiers, Evelyne Lerut, Herlinde Dumez, Brigitte Decallonne, Paul Clement, Dirk Vanderschueren, Maarten Albersen, Raymond Oyen, Patrick Schöffski, Benoit Beuselinck
Objectives To study the prevalence of hypogonadism in male patients with metastatic renal cell carcinoma (mRCC) starting with targeted therapies and the impact of the vascular endothelial growth factor receptor tyrosine kinase inhibitors (VEGFR-TKIs) sunitinib and pazopanib on the luteinizing hormone (LH)/testosterone (TT)-axis. Methods Male mRCC patients starting with targeted therapies were prospectively included in this study. TT- and LH-levels were sampled at start as well as during systemic therapy. Endpoints of the study were gonadal status (TT- and LH-levels) at start of targeted therapy and TT- and LH-evolution during targeted therapy...
May 18, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29774669/obstructive-sleep-apnea-and-testosterone-deficiency
#4
REVIEW
Sung Dong Kim, Kyu Sup Cho
Obstructive sleep apnea (OSA) is a common disorder characterized by intermittent hypoxia and sleep fragmentation. OSA in middle-aged men is often associated with decreased testosterone secretion, together with obesity and aging. Although OSA treatment does not reliably increase testosterone levels in most studies, OSA treatment with testosterone replacement therapy (TRT) may not only improve hypogonadism, but can also alleviate erectile/sexual dysfunction. However, because TRT may exacerbate OSA in some patients, patients should be asked about OSA symptoms before and after starting TRT...
May 16, 2018: World Journal of Men's Health
https://www.readbyqxmd.com/read/29772111/clomiphene-citrate-and-human-chorionic-gonadotropin-are-both-effective-in-restoring-testosterone-in-hypogonadism-a-short-course-randomised-study
#5
Mohamad Habous, Simone Giona, Alaa Tealab, Mohammed Aziz, Ben Williamson, Mohammed Nassar, Zeyad Abdelrahman, Abdallah Remeah, Mohamed Abdelkader, Saleh Binsaleh, Gordon Muir
OBJECTIVES: To compare serum testosterone response and symptom improvement in hypogonadal men in response to treatment by one of three options: clomiphene citrate(CC), human chorionic gonadotropin (hCG), or combination of both therapy. PATIENTS AND METHODS: 282 hypogonadal adult, willing to preserve their fertility, were randomised in three arms treated respectively with: 50 mg of (CC) (n=95), 5000IU of hCG injections twice a week(n=94) or combination of both therapy(n=94)...
May 17, 2018: BJU International
https://www.readbyqxmd.com/read/29770362/study-of-anti-m%C3%A3-llerian-hormone-levels-in-patients-with-myotonic-dystrophy-type-1-preliminary-results
#6
Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano
Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29768629/controversial-issues-in-the-management-of-hyperprolactinemia-and-prolactinomas-an-overview-by-the-neuroendocrinology-department-of-the-brazilian-society-of-endocrinology-and-metabolism
#7
Lucio Vilar, Julio Abucham, José Luciano Albuquerque, Luiz Antônio Araujo, Monalisa F Azevedo, Cesar Luiz Boguszewski, Luiz Augusto Casulari, Malebranche B C Cunha Neto, Mauro A Czepielewski, Felipe H G Duarte, Manuel Dos S Faria, Monica R Gadelha, Heraldo M Garmes, Andrea Glezer, Maria Helane Gurgel, Raquel S Jallad, Manoel Martins, Paulo A C Miranda, Renan M Montenegro, Nina R C Musolino, Luciana A Naves, Antônio Ribeiro-Oliveira Júnior, Cíntia M S Silva, Camila Viecceli, Marcello D Bronstein
Prolactinomas are the most common pituitary adenomas (approximately 40% of cases), and they represent an important cause of hypogonadism and infertility in both sexes. The magnitude of prolactin (PRL) elevation can be useful in determining the etiology of hyperprolactinemia. Indeed, PRL levels > 250 ng/mL are highly suggestive of the presence of a prolactinoma. In contrast, most patients with stalk dysfunction, drug-induced hyperprolactinemia or systemic diseases present with PRL levels < 100 ng/mL. However, exceptions to these rules are not rare...
March 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29759049/klinefelter-s-syndrome-with-lupus-encephalitis-and-retroperitoneal-teratoma
#8
C Ng Wq, S E Eide, Huang J, Khor Ym
We report a case of a middle-aged male who presented with pyrexia of unknown origin, oral ulcers, rash and bicytopenia. His past medical history included unexplained proteinuria, infertility and joint pain. Initial workup showed a large retroperitoneal soft tissue mass, which has appeared stable for 10 years. He subsequently developed neuropsychiatric symptoms with imaging findings of meningoencephalitis. Concurrent investigations showed elevated ANA, anti-double-stranded DNA (dsDNA) and ESR levels, as well as low complement levels...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29758361/bone-accrual-in-oligo-amenorrheic-athletes-eumenorrheic-athletes-and-non-athletes
#9
Vibha Singhal, Karen Campoverde Reyes, Brooke Pfister, Kathryn Ackerman, Meghan Slattery, Katherine Cooper, Alexander Toth, Nupur Gupta, Mark Goldstein, Kamryn Eddy, Madhusmita Misra
BACKGROUND: Mechanical loading improves bone mineral density (BMD) and strength while decreasing fracture risk. Cross-sectional studies show that exercise advantage is lost in oligo-amenorrheic athletes (OA). Longitudinal studies examining the opposing effects of exercise and hypogonadism on bone are lacking in adolescents/young adults. OBJECTIVE: Evaluate differences in bone accrual over 12 months in OA, eumenorrheic athletes (EA) and non-athletes (NA). We hypothesized that bone accrual would be lower in OA than EA and NA, with differences most pronounced at non-weight bearing trabecular sites...
May 11, 2018: Bone
https://www.readbyqxmd.com/read/29752700/neuro-radiological-features-can-predict-hypopituitarism-in-primary-autoimmune-hypophysitis
#10
Tommaso Tartaglione, Sabrina Chiloiro, Maria Elena Laino, Antonella Giampietro, Simona Gaudino, Angelo Zoli, Antonio Bianchi, Alfredo Pontecorvi, Cesare Colosimo, Laura De Marinis
Primary autoimmune hypophysitis (PAH) is considered an underdiagnosed disease, due to the difficulty in reaching a definitive diagnosis. PAH clinical diagnosis remains an exclusion diagnosis. We aimed to correlate PAH neuro-radiological signs to endocrine features and evaluate their prognostic role. 24 PAH cases were enrolled and classified according to neuro-radiological signs: in 12 adeno-hypophysitis (AHs), 8 infundibulo-neuro-hypophysitis (INHs) and 4 pan-hypophysitis (PHs). Secondary hypogonadism developed more frequently in INHs as compared to AHs (54...
May 11, 2018: Pituitary
https://www.readbyqxmd.com/read/29752634/bilateral-mastectomy-as-radical-treatment-of-gynecomastia-secondary-to-antiretroviral-therapy-in-a-low-income-setting-a-case-report
#11
Mario Antunes, Marcella Schiavone, Damiano Pizzol, Francesco Di Gennaro, Rossana Ludovico, Angela De Palma
Gynecomastia is a common finding in males, with an incidence that varies widely globally. In 10-25% of cases, it is caused by drugs. Its pathophysiologic mechanism includes exposure to exogenous estrogens and medications that cause hypogonadism, antiandrogenic effects and hyperprolactinemia. Gynecomastia is associated with exposure to antiretroviral therapy (ART), particularly efavirenz. Sometimes surgery may be required as treatment. We report a case of a 46-year-old man receiving ART presenting with a marked bilateral breast enlargement who underwent bilateral mastectomy as the only successful treatment in a low-income setting...
May 11, 2018: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/29750004/testicular-microlithiasis-in-a-clinically-healthy-cynomolgus-monkey-macaca-fascicularis
#12
Norimitsu Shirai, Mark G Evans
The present article describes an occurrence of testicular microlithiasis in a cynomolgus monkey from a routine regulatory toxicology study. The monkey was from a negative control group. Microscopically, the lesion was characterized by multiple extracellular mineralized calculi within seminiferous tubular epithelia of both testes without any tissue reaction or abnormal condition such as cryptorchidism, testicular neoplasm, or hypogonadism. The present case is remarkable in that there is a paucity of reports on spontaneous testicular microlithiasis in nonhuman primates...
April 2018: Journal of Toxicologic Pathology
https://www.readbyqxmd.com/read/29749493/a-novel-pnpla6-compound-heterozygous-mutation-identified-in-a-chinese-patient-with-boucher%C3%A2-neuh%C3%A3-user-syndrome
#13
Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Yuanmei Wang, Jian-Ling Liu, Zhi-Ling Zhou, Xiao-Tao Zhou, Dan-Na Chen, Wei-Hua Liao, Jia-Da Li
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient with BNS was identified in China. A 39‑year‑old male was first diagnosed with hypogonadotropic hypogonadism...
May 3, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29746252/establishing-normal-values-of-total-testosterone-in-adult-healthy-men-by-the-use-of-four-immunometric-methods-and-liquid-chromatography-mass-spectrometry
#14
Giacomo Montagna, Samuela Balestra, Federica D'Aurizio, Francesco Romanelli, Cinzia Benagli, Renato Tozzoli, Lorenz Risch, Luca Giovanella, Mauro Imperiali
BACKGROUND: The total testosterone (T) cutoffs clinically adopted to define late-onset hypogonadism (LOH) do not consider the differences that exist between different analytical platforms, nor do they consider the body mass index (BMI) or age of the patient. We aimed at providing method, age and BMI-specific normal values for total T in European healthy men. METHODS: A total of 351 eugonadal healthy men were recruited, and total T was measured with four automated immunometric assays (IMAs): ARCHITECT i1000SR (Abbott), UniCel DxI800 (Beckman Coulter), Cobas e601 (Roche), IMMULITE 2000 (Siemens) and liquid chromatography-tandem mass spectrometry (LC-MS/MS)...
May 10, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29745791/prevention-and-management-of-osteoporosis-and-osteoporotic-fractures-in-persons-with-a-spinal-cord-injury-or-disorder-a-systematic-scoping-review
#15
Nour Zleik, Frances Weaver, Robert L Harmon, Brian Le, Reshmitha Radhakrishnan, Wanda D Jirau-Rosaly, B Catharine Craven, Mattie Raiford, Jennifer N Hill, Bella Etingen, Marylou Guihan, Michael H Heggeness, Cara Ray, Laura Carbone
OBJECTIVES: The primary objective was to review the literature regarding methodologies to assess fracture risk, to prevent and treat osteoporosis and to manage osteoporotic fractures in SCI/D. STUDY DESIGN: Scoping review. Settings/Participants: Human adult subjects with a SCI/D. OUTCOME MEASURES: Strategies to identify persons with SCI/D at risk for osteoporotic fractures, nonpharmacological and pharmacological therapies for osteoporosis and management of appendicular fractures...
May 10, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29743865/somatopause-weaknesses-of-the-therapeutic-approaches-and-the-cautious-optimism-based-on-experimental-ageing-studies-with-soy-isoflavones
#16
REVIEW
Vladimir Z Ajdžanovic, Svetlana Trifunovic, Dragana Miljic, Branka Šošic-Jurjevic, Branko Filipovic, Marko Miler, Nataša Ristic, Milica Manojlovic-Stojanoski, Verica Miloševic
The pathological phenomenon of somatopause, noticeable in hypogonadal ageing subjects, is based on the growth hormone (GH) production and secretion decrease along with the fall in GH binding protein and insulin-like growth factor 1 (IGF-1) levels, causing different musculoskeletal, metabolic and mental issues. From the perspective of safety and efficacy, GH treatment is considered to be highly controversial, while some other therapeutic approaches (application of IGF-1, GH secretagogues, gonadal steroids, cholinesterase-inhibitors or various combinations) exhibit more or less pronounced weaknesses in this respect...
2018: EXCLI journal
https://www.readbyqxmd.com/read/29743395/-allogeneic-hematopoietic-stem-cell-transplantation-using-myeloablative-conditioning-including-total-body-irradiation-for-pediatric-acute-lymphoblastic-leukemia-a-single-center-retrospective-analysis
#17
Mamoru Honda, Yuki Arakawa, Ryota Kawakami, Toshikazu Itabashi, Masato Yanagi, Koji Sasaki, Kentaro Watanabe, Kiyotaka Isobe, Makiko Mori, Ryoji Hanada, Katsuyoshi Koh
This study aimed to investigate the clinical outcomes of hematopoietic stem cell transplantation (HSCT) with total body irradiation-based myeloablative conditioning (TBI-MAC) in pediatric patients with acute lymphoblastic leukemia (ALL). We retrospectively examined patients with ALL who underwent HSCT with TBI-MAC from January 2000 to August 2016 at our institute. We enrolled 67 patients with a median follow-up period of 8 years. The 5-year event-free survival (EFS) and overall survival (OS) were 51.2% and 59...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29743178/phenotypic-analysis-of-hemochromatosis-subtypes-reveals-variations-in-severity-of-iron-overload-and-clinical-disease
#18
Kam Sandhu, Kaledas Flintoff, Mark D Chatfield, Jeannette L Dixon, Louise E Ramm, Grant A Ramm, Lawrie W Powell, V Nathan Subramaniam, Daniel F Wallace
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the HJV , HAMP or TFR2 genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically confirmed HJV, HAMP and TFR2 HH was performed. Phenotypic and clinical data from a total of 156 subjects with non-HFE HH was extracted from 53 publications and compared with data from 984 subjects with HFE -p...
May 9, 2018: Blood
https://www.readbyqxmd.com/read/29737067/-correlation-between-testosterone-and-metabolic-index-in-male-patients-with-type-2-diabetes-mellitus
#19
Wen Cao, Ren-Dong Zheng, Yao-Fu Fan, Chao Liu
OBJECTIVE: To determine the effect of testosterone on serum glucose,lipid,uric acid and insulin metabolism in male patients with type 2 diabetes mellitus. METHODS: A total of 205 male patients with type 2 diabetes participated in this study. They were divided into two groups: those with normal testosterone (TT) (TT≥12 nmol/L, n =135) and those with low TT (TT<12 nmol/L, n =70). Their body mass,waist circumference (WC),body mass index (BMI),blood glucose, total cholesterol (TC), triglycerides (TG), serum uric acid (SUA),insulin,testosterone,luteinizing hormone (LH),follicle stimulating hormone (FSH),estradiol (E2),and sex hormone binding globulin (SHBG) were measured...
March 2018: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29734846/the-efficacy-and-safety-of-short-acting-testosterone-ointment-glowmin-for-late-onset-hypogonadism-in-accordance-with-testosterone-circadian-rhythm
#20
Toshiyasu Amano, Teruaki Iwamoto, Yoshikazu Sato, Tetsuya Imao, Carolyn Earle
INTRODUCTION: It is well known that there is a reduction of circadian rhythm in blood testosterone levels with aging. Our previous report revealed that 3 mg of short-acting testosterone ointment (Glowmin: GL) elevated serum testosterone levels to within the physiological range for 4-6 h. The aim of this study was to clarify the clinical efficacy and safety of GL used topically once every morning, to enhance the circadian rhythm of testosterone, for late-onset hypogonadism (LOH). METHODS: A total of 61 LOH patients received 3 mg of GL topically once a day in the morning on scrotal skin for 24 weeks...
May 8, 2018: Aging Male: the Official Journal of the International Society for the Study of the Aging Male
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