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Androgen deficiency: causes

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https://www.readbyqxmd.com/read/29328376/identification-of-a-novel-compound-heterozygous-mutation-of-the-cyp21a2-gene-causing-21%C3%A2-hydroxylase-deficiency-in-a-chinese-pedigree
#1
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the precise diagnosis of 21‑OHD at the molecular level. Members of a Chinese family with 21‑OHD were screened for mutations in the CYP21A2 gene...
January 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29245176/high-risk-of-hypogonadism-in-young-male-cancer-survivors
#2
S Isaksson, K Bogefors, O Ståhl, J Eberhard, Y Lundberg Giwercman, I Leijonhufvud, K Link, I Øra, P Romerius, J Bobjer, A Giwercman
OBJECTIVE: Cancer and its treatment in childhood and young adulthood can cause hypogonadism, leading to increased risk of long term morbidity and mortality. The aim of this study was to evaluate the risk of presenting with biochemical signs of hypogonadism in testicular cancer survivors (TCS) and male childhood cancer survivors (CCS) in relation to the type of treatment given. DESIGN: Case-control study. PATIENTS: Ninety-two TCS, 125 CCS (mean age 40 and median age 34 years, respectively; mean follow-up time 9...
December 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29224108/negative-impact-of-testosterone-deficiency-and-5%C3%AE-reductase-inhibitors-therapy-on-metabolic-and-sexual-function-in-men
#3
Abdulmaged M Traish
Androgens are steroid hormones with pleotropic and diverse biochemical and physiological functions, and androgen deficiency exerts a negative impact on human health. Testosterone (T) either directly or via its transformation into the more potent metabolite 5α-dihydrotestosterone (5α-DHT) or via aromatization into estradiol (E2) modulates important biochemical signaling pathways of human physiology and plays a critical role in the growth and/or maintenance of functions in a host of tissues and organs. T and 5α-DHT play an important role in regulating physiology of the muscle, adipose tissue, liver, bone, and central nervous system, as well as reproductive and sexual functions...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29183872/endotoxin-initiated-inflammation-reduces-testosterone-production-in-men-of-reproductive-age
#4
Kelton Tremellen, Natalie McPhee, Karma Pearce, Sven Bedson, Manfred Schedlowski, Harald Engler
Inflammation, both acute and chronic is associated with testosterone deficiency, raising the possibility of a direct causal link. One potential trigger for inflammation in obese men is the passage of intestinal bacteria into the circulation due to a breakdown in mucosal barrier integrity. Recently we hypothesized that this endotoxin exposure may cause androgen deficiency in obese men. To test this hypothesis, we analysed the relationship between serum levels of lipopolysaccharide binding protein (LBP), an indirect measure of endotoxin exposure, against male reproductive hormones, inflammatory markers (CRP, IL-1β, IL-6, TNF-α) and adiposity in 75 men...
November 28, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#5
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29138225/androgen-signaling-expands-%C3%AE-cell-mass-in-male-rats-and-%C3%AE-cell-androgen-receptor-is-degraded-under-high-glucose-conditions
#6
Naoki Harada, Yasuhiro Yoda, Yusuke Yotsumoto, Tatsuya Masuda, Yuji Takahashi, Takahiro Katsuki, Kenji Kai, Nobuaki Shiraki, Hiroshi Inui, Ryoichi Yamaji
A deficient pancreatic β-cell mass increases the risk of type 2 diabetes mellitus. Here, we investigated the effects of testosterone on the development of pancreatic β-cell mass in male rats. The β-cell mass of male rats castrated at 6 weeks of age was reduced to ~30% of that of control rats at 16 weeks of age, and castration caused glucose intolerance. Loss of β-cell mass occurred due to decreases in islet density/pancreas and β-cell cluster size. Castration was negatively associated with the number of Ki67-positive β-cells and positively associated with the number of TUNEL-positive β-cells...
November 14, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29117897/exploring-the-tetrahydroisoquinoline-thiohydantoin-scaffold-blockade-the-androgen-receptor-as-potent-anti-prostate-cancer-agents
#7
Xi Xu, Raoling Ge, Lei Li, Jubo Wang, Xiaoyu Lu, Siqi Xue, Xijing Chen, Zhiyu Li, Jinlei Bian
Prostate cancer (PC) is a major cause of cancer-related male death in worldwide and the identification of new and improved potent anti-PC molecules is constantly required. A novel scaffold of tetrahydroisoquinoline thiohydantoin was rationally designed based on the enzalutamide structures and our pre-work, leading to the discovery of a series of new antiproliferative compounds. Several new analogues displayed improved androgen receptor (AR) antagonistic activity, while maintaining the higher selective toxicity toward LNCaP cells (AR-rich) versus DU145 cells (AR-deficient) compared to enzalutamide...
October 14, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29110178/priapism-in-a-fabry-disease-mouse-model-is-associated-with-upregulated-penile-nnos-and-enos-expression
#8
Xing-Li Meng, Erland Arning, Mary Wight-Carter, Taniqua S Day, Siamak Jabbarzadeh-Tabrizi, Shuyuan Chen, Robin J Ziegler, Teodoro Bottiglieri, Jay W Schneider, Seng H Cheng, Raphael Schiffmann, Jin-Song Shen
Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis. The goal of this study was to investigate the pathogenesis of Fabry disease-associated priapism in a mouse model of the disease. We found that Fabry mice develop late-onset priapism. Neuronal nitric oxide synthase (nNOS), which was predominantly present as the 120-kDa N-terminus-truncated form, was significantly upregulated in the penis of 18-month-old Fabry mice compared to wild type controls (~fivefold)...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29073307/a-follow-up-history-of-young-man-with-apparent-cortisone-reductase-deficiency-acrd-several-years-after-diagnosis
#9
Adrianna Zajkowska, Marta Rydzewska, Katarzyna Wojtkielewicz, Janusz Pomaski, Tomasz Romer, Artur Bossowski
INTRODUCTION: Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH), the enzyme responsible for NADPH generation playing critical role in 11-hydroxysteroid dehydrogenase type 1 (11b-HSD1) activity, cause apparent cortisone reductase deficiency (ACRD). It leads to increased metabolic clearance rate of cortisol due to a defect in cortisone to cortisol conversion by 11b-HSD1. We want to analyse the process of the disease, efficacy of long-lasting treatment with glucocorticoids throughout childhood and adolescence in only male patient with ACRD...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29069393/sclerostin-antibody-reverses-bone-loss-by-increasing-bone-formation-and-decreasing-bone-resorption-in-a-rat-model-of-male-osteoporosis
#10
Xiaodong Li, Michael S Ominsky, Kelly S Villasenor, Qing-Tian Niu, Frank J Asuncion, Xuechun Xia, Mario Grisanti, Thomas J Wronski, W Scott Simonet, Hua Zhu Ke
Sclerostin antibody (Scl-Ab) restored bone mass and strength in the ovariectomized rat model of postmenopausal osteoporosis. Increased bone mineral density (BMD) and decreased skeletal fragility fracture risk have been reported in postmenopausal osteoporotic women receiving Scl-Ab. In males, loss of androgen leads to rapid decreases in BMD and increased risk for fragility fractures. We hypothesized that Scl-Ab could reverse the loss of bone mass and strength caused by androgen ablation in the orchiectomized (ORX) rat model of male osteoporosis...
October 20, 2017: Endocrinology
https://www.readbyqxmd.com/read/29020729/diagnosing-and-managing-androgen-deficiency-in-men
#11
REVIEW
Raveen Kaur Sandher, Jonathan Aning
Androgens play a crucial role in bone, muscle and fat metabolism, erythropoiesis and cognitive health. In men aged 40-79 years the incidence of biochemical deficiency and symptomatic hypogonadism is 2.1-5.7%. Decreased libido or reduced frequency and quality of erections, fatigue, irritability, infertility or a diminished feeling of wellbeing may be presenting complaints. However, a significant proportion of men with androgen deficiency will be identified when they present for unrelated concerns. Important factors to elicit from the history in addition to the presenting complaint include: a medical history of obesity, type 2 diabetes, systemic diseases or metabolic syndrome which all impact on testosterone physiology...
April 2017: Practitioner
https://www.readbyqxmd.com/read/28994098/the-impact-of-antiandrogen-flutamide-on-the-hypoxia-inducible-factor-1%C3%AE-and-vascular-endothelial-growth-factor-a-gene-and-protein-expression-in-the-pig-placenta-during-late-pregnancy
#12
Elzbieta Czaja, Iwona Wieciech-Rojkiewicz, Katarzyna Knapczyk-Stwora, Malgorzata Grzesiak, Maria Słomczynska
INTRODUCTION: In contrast to estradiol action, little is known about androgen signaling in placental development. The purpose of this study was to evaluate the impact of diminished androgen action on hypoxia inducible factor 1α (HIF-1α) and vascular endothelial growth factor A (VEGFA) protein expression as well as their mRNAs in the structures of fetal and maternal parts of porcine placenta during late pregnancy. MATERIAL AND METHODS: Pregnant pigs were injected daily with antiandrogen flutamide, at a dose of 50 mg/kg body weight at different stages of pregnancy: between gestational days 83-89 (90 dpc) and 101-107 (108 dpc)...
October 10, 2017: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28965787/reporting-erectile-function-outcomes-after-radiation-therapy-for-prostate-cancer-challenges-in-data-interpretation
#13
Ruud C Wortel, Luca Incrocci, John P Mulhall
BACKGROUND: Choice of prostate cancer treatment is frequently influenced by the expected chance of treatment-induced side effects such as erectile dysfunction (ED). However, great discrepancy in cited ED rates exists in the contemporary radiation therapy literature. AIM: To analyze the reported ED rates and cause of discrepancies and explore the strengths and limitations in the literature on radiation-induced ED. METHODS: We performed a PubMed literature search and reviewed the literature on ED rates associated with external-beam radiotherapy and brachytherapy from the past 10 years...
October 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28937035/effects-of-pinealectomy-and-gonadectomy-on-olfactory-bulb-dopaminergic-neurons-in-rats
#14
Yan Li, Jian Zhu, Ying Wang, Lei Guo, Lei Li, Dong Wang
BACKGROUND: Olfactory disorder is an early manifestation of Parkinson's disease (PD), likely to be associated with abnormalities of the dopaminergic neurons in the olfactory bulb (OB); however, the causes of olfactory disorder in PD are not entirely clear. Some studies showed that melatonin (MT) and androgens (mainly testosterone, T) might participate in the pathogenesis of PD. The research aimed to investigate effects of MT or T deficiency on OB dopaminergic neurons in rats. METHODS: One hundred and twenty normal male Wistar rats were randomly divided into the control, sham operation pinealectomy (PX), sham operation gonadectomy (GDX), PX, GDX, and PX + GDX groups...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28924485/hypogonadotropic-hypogonadism-in-human-immunodeficiency-virus-infected-men-uncommonly-low-testosterone-levels
#15
Ana Coelho Gomes, José Maria Aragüés, Sílvia Guerra, Joana Fernandes, Mário Rui Mascarenhas
Hypogonadotropic hypogonadism (HH) is common and occurs prematurely in HIV-infected men. However, HH with very low testosterone has not been described. Three men with normal pubertal development and HIV1 diagnosis at the ages of 22, 34 and 35 years. All complained of decreased libido, anejaculation and erectile dysfunction thirteen years, six months and one year after HIV diagnosis, respectively. Two had depressive syndrome and two were treated with antiretroviral therapy. Laboratory tests revealed isolated HH in all...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28915573/lipid-catabolism-inhibition-sensitizes-prostate-cancer-cells-to-antiandrogen-blockade
#16
Thomas W Flaig, Maren Salzmann-Sullivan, Lih-Jen Su, Zhiyong Zhang, Molishree Joshi, Miguel A Gijón, Jihye Kim, John J Arcaroli, Adrie Van Bokhoven, M Scott Lucia, Francisco G La Rosa, Isabel R Schlaepfer
Prostate cancer (PCa) is the most common malignancy among Western men and the second leading-cause of cancer related deaths. For men who develop metastatic castration resistant PCa (mCRPC), survival is limited, making the identification of novel therapies for mCRPC critical. We have found that deficient lipid oxidation via carnitine palmitoyltransferase (CPT1) results in decreased growth and invasion, underscoring the role of lipid oxidation to fuel PCa growth. Using immunohistochemistry we have found that the CPT1A isoform is abundant in PCa compared to benign tissue (n=39, p<0...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#17
Kingsley Okolie, Sumathy Perampalam, Anthony Barker, Christopher J Nolan
Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28699484/immune-response-to-native-lipoproteins-induces-visceral-obesity-and-aortic-wall-injury-in-rats-the-role-of-testosterone
#18
Kseniya Fomina, Liubov Beduleva, Igor Menshikov, Marina Marina Anikaeva, Daria Suntsova, Alexandr Sidorov, Elena Stolyarova
OBJECTIVES: The underlying mechanism of atherosclerosis and visceral obesity remains unknown. The purpose of this study was to test the hypothesis that atherosclerosis and visceral obesity are caused by an immune response to native plasma lipoproteins, and the atherogenic and adipogenic effects of the antibodies to native lipoproteins stem from the androgen deficiency that is created. METHODS: Wistar rats were immunized with native human (nh) low-density (LDL) or high-density lipoproteins (HDL)...
July 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28687949/controversies-of-sex-re-assignment-in-genetic-males-with-congenital-inadequacy-of-the-penis
#19
Venkatachalam Raveenthiran
Sex assignment in 46XY genetic male children with congenital inadequacy of the penis (CIP) is controversial. Traditionally, children with penile length less than 2 cm at birth are considered unsuitable to be raised as males. They are typically re-assigned to female-sex and feminizing genitoplasty is usually done in infancy. However, the concept of cerebral androgen imprinting has caused paradigm shift in the philosophy of sex re-assignment. Masculinization of the brain, rather than length of the penis, is the modern criterion of sex re-assignment in CIP...
September 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28680856/sertoli-cells-are-susceptible-to-zikv-infection-in-mouse-testis
#20
Zi-Yang Sheng, Na Gao, Zhao-Yang Wang, Xiao-Yun Cui, De-Shan Zhou, Dong-Ying Fan, Hui Chen, Pei-Gang Wang, Jing An
Flaviviruses including Dengue virus (DENV), Yellow fever virus (YFV), West Nile virus (WNV), and Japanese encephalitis virus (JEV) are global health problems that caused several serious diseases such as fever, hemorrhagic fever, and encephalitis in the past century. Recently, Zika virus (ZIKV) which spreads from Asia to American and causes millions of infections emerges as a new dangerous member of the genus of Flavivirus. Unlike other well-known flaviviruses, ZIKV can be transmitted sexually and infect testes in murine models...
2017: Frontiers in Cellular and Infection Microbiology
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