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https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#1
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/28109841/disruption-of-aromatase-homeostasis-as-the-cause-of-a-multiplicity-of-ailments-a-comprehensive-review
#2
REVIEW
Seema Patel
Human health is beset with a legion of ailments, which is exacerbated by lifestyle errors. Out of the numerous enzymes in human body, aromatase, a cytochrome P450 enzyme is particularly very critical. Occurring at the crossroads of multiple signalling pathways, its homeostasis is vital for optimal health. Unfortunately, medications, hormone therapy, chemical additives in food, and endocrine-disrupting personal care products are oscillating the aromatase concentration beyond the permissible level. As this enzyme converts androgens (C19) into estrogens (C18), its agitation has different outcomes in different genders and age groups...
January 18, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27932515/genotoxic-effect-of-iron-overload-and-disease-complications-in-transfused-%C3%AE-thalassaemic-patients
#3
Elisa Ferro, Giuseppa Visalli, Maria Angela La Rosa, Basilia Piraino, Rosa Civa, Gaetano Randazzo Papa, Angela Di Pietro
In previously reported studies, we observed significantly high genotoxicity biomarkers in regularly transfused thalassaemic patients, thus, in this study, we better investigated the genotoxic effect of iron overload and of thalassaemia complications, including their drug treatments. The assessment was performed in 64 regularly transfused thalassaemic patients using cytokinesis-block micronucleus and comet assays. All patients were splenectomised and undergoing iron chelation therapy. To reduce hypoxia-induced oxidative damage, the patients with haemoglobin levels <9...
December 8, 2016: Mutagenesis
https://www.readbyqxmd.com/read/27866050/boucher-neuh%C3%A3-user-syndrome-a-rare-cause-of-inherited-hypogonadotropic-hypogonadism-a-case-of-two-adult-siblings-with-two-novel-mutations-in-pnpla6
#4
Jakob H Langdahl, Anja L Frederiksen, Nina Nguyen, Klaus Brusgaard, Claus B Juhl
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty...
February 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27856519/featured-article-transcriptional-landscape-analysis-identifies-differently-expressed-genes-involved-in-follicle-stimulating-hormone-induced-postmenopausal-osteoporosis
#5
Katre Maasalu, Ott Laius, Lidiia Zhytnik, Sulev Kõks, Ele Prans, Ene Reimann, Aare Märtson
Osteoporosis is a disorder associated with bone tissue reorganization, bone mass, and mineral density. Osteoporosis can severely affect postmenopausal women, causing bone fragility and osteoporotic fractures. The aim of the current study was to compare blood mRNA profiles of postmenopausal women with and without osteoporosis, with the aim of finding different gene expressions and thus targets for future osteoporosis biomarker studies. Our study consisted of transcriptome analysis of whole blood serum from 12 elderly female osteoporotic patients and 12 non-osteoporotic elderly female controls...
January 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27849376/clomiphene-citrate-in-the-treatment-of-idiopathic-or-functional-hypogonadotropic-hypogonadism-in-men-a-case-series-and-review-of-the-literature
#6
Yair Liel
OBJECTIVE: Late onset hypogonadotropic hypogonadism (LOH) is a complex, heterogeneous entity. Whenever treatment is indicated, the endocrine literature has recommend testosterone replacement. We present our experience with clomiphene citrate (CC) treatment in patients with LOH and a review of the literature. DESIGN: A retrospective case series. PATIENTS AND MEASUREMENTS: Eighteen male patients with hypogonadotropic hypogonadism, roughly according to the EMAS criteria for LOH, attended at an academic hospital outpatient clinic...
November 16, 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27813398/treatment-of-osteoporosis-secondary-to-hypogonadism-in-prostate-carcinoma-patients-a-prospective-randomized-multicenter-international-study-with-denosumab-vs-alendronate
#7
Carlo Doria, Giulia R Mosele, Federico Solla, Gianluca Maestretti, Massimo Balsano, Roberto M Scarpa
BACKGROUND: Osteoporosis is a complication of androgen deprivation therapy (ADT) in men with prostate carcinoma. This is a multicenter, randomized, double-blind prospective study on use of Denosumab versus Alendronate in the therapy of secondary osteoporosis related to ADT. METHODS: 234 patients with diagnosis of osteoporosis underwent ADT for prostate cancer were enrolled. Patients were randomly assigned 1:1 to receive Denosumab 60 mg subcutaneously every 6 months or Alendronate (70 mg weekly) for 2 years...
November 4, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/27652043/bisphosphonate-related-osteonecrosis-of-the-jaws-bronj-in-osteoporotic-males
#8
Yong-Dae Kwon, Chae-Yoon Lee, Sung Ok Hong, Yeon-Ah Lee, Joo-Young Ohe, Deog-Yoon Kim
BACKGROUND: The purpose of this study was to describe the clinical characteristics of bisphosphonate related osteonecrosis of the jaws (BRONJ) in osteoporotic males. METHODS: The medical records of BRONJ patients from 2007 to 2014 were reviewed. The data from only the male patients was extracted, and demographic data was collected and biochemical markers were measured. RESULTS: 11 Patients out of 210 (5 %) being males. Among the 11 patients, the indication of bisphosphonate (BP) was osteoporosis in 9 patients, and cancer in two...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27622887/androgens-have-antiresorptive-effects-on-trabecular-disuse-osteopenia-independent-from-muscle-atrophy
#9
Michaël R Laurent, Ferran Jardí, Vanessa Dubois, Dieter Schollaert, Rougin Khalil, Evelien Gielen, Geert Carmeliet, Frank Claessens, Dirk Vanderschueren
Aging hypogonadal men are at increased risk of osteoporosis and sarcopenia. Testosterone is a potentially appealing strategy to prevent simultaneous bone and muscle loss. The androgen receptor (AR) mediates antiresorptive effects on trabecular bone via osteoblast-lineage cells, as well as muscle-anabolic actions. Sex steroids also modify the skeletal response to mechanical loading. However, it is unclear whether the effects of androgens on bone remain effective independent of mechanical stimulation or rather require indirect androgen effects via muscle...
September 10, 2016: Bone
https://www.readbyqxmd.com/read/27571924/survival-and-complication-rates-in-patients-with-thalassemia-major-in-taiwan
#10
Han-Ping Wu, Cheng-Li Lin, Yin-Chen Chang, Kang-Hsi Wu, Rouh-Lih Lei, Ching-Tien Peng, Tefu Weng, Yu-Man Tai, Yu-Hua Chao
BACKGROUND: While transfusion and iron chelation therapy for thalassemia major (TM) has improved dramatically in recent years, the consequences of this improvement (current rates of survival and TM-related complications) remain unknown. METHODS: This nationwide population-based cohort study analyzed 2007-2011 data obtained from the Taiwanese National Health Insurance Research Database. RESULTS: After excluding those patients receiving hematopoietic stem cell transplantation, we enrolled 454 patients with TM who received transfusion and chelation therapy (median age, 17...
August 30, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27541945/trabecular-bone-characterization-on-the-continuum-of-plates-and-rods-using-in-vivo-mr-imaging-and-volumetric-topological-analysis
#11
Cheng Chen, Dakai Jin, Yinxiao Liu, Felix W Wehrli, Gregory Chang, Peter J Snyder, Ravinder R Regatte, Punam K Saha
Osteoporosis is associated with increased risk of fractures, which is clinically defined by low bone mineral density. Increasing evidence suggests that trabecular bone (TB) micro-architecture is an important determinant of bone strength and fracture risk. We present an improved volumetric topological analysis algorithm based on fuzzy skeletonization, results of its application on in vivo MR imaging, and compare its performance with digital topological analysis. The new VTA method eliminates data loss in the binarization step and yields accurate and robust measures of local plate-width for individual trabeculae, which allows classification of TB structures on the continuum between perfect plates and rods...
September 21, 2016: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/27400591/-osteoporosis-a-clinical-perspective
#12
REVIEW
Niina Matikainen
Osteoporosis is defined by decreased bone density and microarchitectural deterioration that predispose to fragility fractures. The WHO diagnostic criteria of osteoporosis require bone densitometry but treatment is possible on the basis of high clinical fracture risk and can be assessed by the FRAX risk algorithm. All those subject to fracture risk should be advised about proper basic treatment of osteoporosis, including exercise, prevention of falls, smoking cessation, avoidance of alcohol intake, and dietary or supplemental abundance of calcium and vitamin D...
2016: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/27366710/endocrine-profile-of-%C3%AE-thalassemia-major-patients-followed-from-childhood-to-advanced-adulthood-in-a-tertiary-care-center
#13
Vincenzo De Sanctis, Heba Elsedfy, Ashraf T Soliman, Ihab Zaki Elhakim, Nada A Soliman, Rania Elalaily, Christos Kattamis
AIM: Chronic iron overload resulting from frequent transfusions, poor compliance to efficient chelation therapy and chronic liver disease is basically responsible for the most severe complications of thalassemia major (TM). Before conventional treatment, TM was entirely childhood disease with a very short survival. Today, survival improved to 40-50 years and becomes a prevalent disease of adulthood and in the near future it will be one of senility. Furthermore, clinical phenotype of TM is changing with age and appearance of severe complications from the heart and endocrine glands that require special health care from well-informed specialists...
July 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27346318/-treatment-of-osteoporosis-in-hypogonadal-men
#14
Ken Marumo, Kenichi Hata, Jun Hagiuda
About 3million men have been reported to have osteoporosis in Japan. One of known causes of osteoporosis in men is late-onset-hypogonadism. Androgen replacement therapy has been reporte to be effective in seveal literatures, however, patitiets should be excluded if prostate cancer is suspected. Addition of bisphosphpnate and active vitain D derivatives are recommended.
July 2016: Clinical Calcium
https://www.readbyqxmd.com/read/27346312/-early-onset-and-late-onset-male-hypogonadotropic-hypogonadism-and-osteoporosis
#15
Hiroshi Okada, Takeshi Shin, Yoshitomo Kobori
Hypogonadism is classified into two major clinical entities, namely early-onset hypogonadism and late-onset hypogonadism. The former is characterized by the malfunction of hypothalamo-pituitary-gonadal(testicular)axis or by the primary hypofunction of testes(e.g. Klinefelter's syndrome). The latter is summarized as LOH syndrome which is attributed to the dropped level of bioavailable testosterone. In these diseases testosterone is the key molecule which may cause various symptoms relating not only to physical health but also to mental or psychologic health...
July 2016: Clinical Calcium
https://www.readbyqxmd.com/read/27346308/-age-related-changes-in-androgen-and-bone-metabolism
#16
REVIEW
Sumito Ogawa, Masahiro Akishita
Decline of androgen level is involved in symptoms of late-onset hypogonadism in aging male, and recent findings suggest that it is also associated with osteoporosis, sarcopenia. Diagnosis and therapeutic intervention against osteoporosis in men is important for preventing from subsequent disability and frailty in elderly population.
July 2016: Clinical Calcium
https://www.readbyqxmd.com/read/27334805/prolactin-levels-in-drug-na%C3%A3-ve-patients-with-schizophrenia-and-other-psychotic-disorders
#17
Petros Petrikis, Stelios Tigas, Alexandros T Tzallas, Dimitra T Archimandriti, Petros Skapinakis, Venetsanos Mavreas
OBJECTIVE: Hyperprolactinaemia as a side effect of dopamine receptor blockers is common in patients with schizophrenia and other psychotic disorders and may lead to amenorrhoea, galactorrhoea, hypogonadism, subfertility and osteoporosis. The aim of our study was to determine whether hyperprolactinaemia occurs also in patients with schizophrenia and other psychotic disorders prior to any antipsychotic treatment. METHODS: Serum prolactin, thyroid-stimulating hormone (TSH), triiodothyronine (T3), free tetraiodothyronine (FT4) and cortisol levels were measured in 40 newly diagnosed, drug naïve, patients with schizophrenia and other psychotic disorders and in 40 age and gender matched healthy subjects...
September 2016: International Journal of Psychiatry in Clinical Practice
https://www.readbyqxmd.com/read/27241810/severity-and-pattern-of-bone-mineral-loss-in-endocrine-causes-of-osteoporosis-as-compared-to-age-related-bone-mineral-loss
#18
D Dutta, P Dharmshaktu, A Aggarwal, K Gaurav, R Bansal, N Devru, U C Garga, B Kulshreshtha
BACKGROUND: Data are scant on bone health in endocrinopathies from India. This study evaluated bone mineral density (BMD) loss in endocrinopathies [Graves' disease (GD), type 1 diabetes mellitus (T1DM), hypogonadotrophic hypogonadism (HypoH), hypergonadotropic hypogonadism (HyperH), hypopituitarism, primary hyperparathyroidism (PHPT)] as compared to age-related BMD loss [postmenopausal osteoporosis (PMO), andropause]. MATERIALS AND METHODS: Retrospective audit of records of patients >30 years age attending a bone clinic from August 2014 to January 2016 was done...
July 2016: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/27141446/hypogonadism-and-erectile-dysfunction-as-harbingers-of-systemic-disease
#19
REVIEW
Kelly A Chiles
Prescription sales of Testosterone and erectile aids such as phosphodiesterase-5 inhibitors are at an all-time high, underscoring the importance of hypogonadism (HG) and erectile dysfunction (ED) to men's health. The effect of these debilitating conditions has a major impact on the quality of men's lives. Some risk factors for HG or ED including aging, obesity, smoking, and a sedentary lifestyle. Notably, these are the same risk factors for several other medical co-morbidities that contribute to significant morbidity and mortality in men...
April 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27111233/from-the-gut-to-the-strut-where-inflammation-reigns-bone-abstains
#20
Jameel Iqbal, Tony Yuen, Li Sun, Mone Zaidi
In this issue of the JCI, Li et al. show that germ-free mice, when chemically castrated, do not lose bone - a finding that unequivocally establishes a role of gut microbiota in mediating hypogonadal bone loss. Additionally and not unexpectedly, probiotics reversed hypogonadal osteopenia in sex steroid-deficient mice by preventing the disruption of gut barrier function and dampening cytokine-induced inflammation. The authors propose that TNFα is a key mediator; however, it is very likely that other molecules - including IL-1, IL-6, IL-17, RANKL, OPG, and CCL2 - modulate probiotic action...
June 1, 2016: Journal of Clinical Investigation
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