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Androgen deficiency: causes

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https://www.readbyqxmd.com/read/28609197/the-glu331del-mutation-in-the-cyp17a1-gene-causes-atypical-congenital-adrenal-hyperplasia-in-a-46-xx-female
#1
Giulia Lanzolla, Giuseppe Vancieri, Silvia Lanciotti, Federica Sangiuolo, Elisa Menegatti, Luca Federici, Costanzo Moretti, Francesco Brancati
17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p.Glu331del mutation in the CYP17A1 gene showing an atypical clinical presentation. She was evaluated the first time for primary amenorrhea and delayed puberty in the presence of low levels of androgens, 17β-estradiol, serum cortisol, and high levels of progesterone and gonadotropins...
June 13, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28583614/effects-of-active-immunization-against-gnrh-versus-surgical-castration-on-hypothalamic-pituitary-function-in-boars
#2
Xingfa Han, Yuqin Zhou, Yu Zeng, Fenfen Sui, Yacheng Liu, Yao Tan, Xiaohan Cao, Xiaogang Du, Fengyan Meng, Xianyin Zeng
The objective was to compare effects of anti-GnRH immunization (immunocastration) versus surgical castration on hypothalamic-pituitary function in boars. Thirty-six boars were randomly divided into three groups (n = 12/group): control, surgically castrated, or immunized against GnRH at 10 wk of age (boostered 8 wk later). Compared to intact boars, immunocastration reduced (P < 0.05) serum concentrations of LH, FSH, testosterone and inhibin B and caused severe testicular atrophy, whereas surgical castration increased (P < 0...
July 15, 2017: Theriogenology
https://www.readbyqxmd.com/read/28473655/lipid-catabolism-inhibition-sensitizes-prostate-cancer-cells-to-antiandrogen-blockade
#3
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...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28455674/androgens-and-hypertension-in-men-and-women-a-unifying-view
#4
REVIEW
Costanzo Moretti, Giulia Lanzolla, Marta Moretti, Lucio Gnessi, Enrico Carmina
PURPOSE OF REVIEW: This review was designed to revaluate the androgen role on the mechanisms of hypertension and cardiovascular risks in both men and women. Sex steroids are involved in the regulation of blood pressure, but pathophysiological mechanism is not well understood. Androgens have an important effect on metabolism, adipose and endothelial cell function, and cardiovascular risk in both men and women. A focal point in this contest is represented by the possible gender-specific regulation of different tissues and in particular of the adipose cell...
May 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28448089/bone-degeneration-and-its-recovery-in-smp30-gnl-knockout-mice
#5
K Nishijima, T Ohno, A Amano, Y Kishimoto, Y Kondo, A Ishigami, S Tanaka
Senescence marker protein-30 (SMP30) decreases androgen-independently with aging and is a lactone-hydrolyzing enzyme gluconolactonase (GNL) that is involved in vitamin C biosynthesis. In the present study, bone properties of SMP30/GNL knockout (KO) mice with deficiency in vitamin C synthesis were investigated to reveal the effects of SMP30/GNL and exogenous vitamin C supplementation on bone formation. Mineral content (BMC) and mineral density (BMD) of the mandible and femur of SMP30/GNL KO and wild-type mice at 2 and 3 months of age with or without vitamin C supplementation were measured by dual-energy X-ray absorptiometry...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/28416368/nutritional-management-in-women-with-polycystic-ovary-syndrome-a-review-study
#6
REVIEW
Zeinab Faghfoori, Siavash Fazelian, Mahdi Shadnoush, Reza Goodarzi
Polycystic ovary syndrome (PCOS) is endocrine disorder in women of reproductive age, which leads to reproductive, hormonal and metabolic abnormalities. Due to the presence of insulin resistance, PCOS increases the risk of chronic diseases like type 2 diabetes, hypertension, lipid disorders, cardiovascular diseases and malignancies such as breast and endometrial cancer. The actual cause of this syndrome is unknown but environmental factors such as dietary habits play an important role in prevention and treatment and lifestyle modifications are the most important therapeutic strategies in these patients...
April 5, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28359097/a-perspective-on-middle-aged-and-older-men-with-functional-hypogonadism-focus-on-holistic-management
#7
REVIEW
Mathis Grossmann, Alvin M Matsumoto
Context: Middle-aged and older men (≥50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic-pituitary-testicular axis pathology but have functional hypogonadism that is potentially reversible. Evidence Acquisition: Literature review from 1970 to October 2016. Evidence Synthesis: Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28359094/birth-weight-in-different-etiologies-of-disorders-of-sex-development
#8
Sukran Poyrazoglu, Feyza Darendeliler, S Faisal Ahmed, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Martina Rodie, Olaf Hiort, Sabine E Hannema, Silvano Bertelloni, Lidka Lisa, Tulay Guran, Martine Cools, An Desloovere, Hedi L Claahsen-van der Grinten, Anna Nordenstrom, Paul-Martin Holterhus, Birgit Kohler, Marek Niedziela, Nils Krone
Context: It is well established that boys are heavier than girls at birth. Although the cause of birth weight (BW) difference is unknown, it has been proposed that it could be generated from prenatal androgen action. Objective: The aim of the current study was to determine the BW of children with disorders of sex development (DSD) of different etiologies and to evaluate the effects of androgen action on BW. Methods: Data regarding diagnosis, BW, gestational age, karyotype, and concomitant conditions were collected from the International Disorders of Sex Development (I-DSD) Registry (www...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28343199/-hypogonadism-in-patients-with-testicular-tumors-and-prostate-cancer
#9
Marcin Radko, Tomasz Syryło, Henryk Zieliński
Hypogonadism is defined as an array of symptoms arising from a deficiency of androgens. It is caused by a hormonal and spermatogenic dysfunction of the testes. It results in impaired fertility and has a negative impact on the functions of multiple organs and systems, physical well-being, sexual functions and also mental state. Particularly patients with a history of cancer have a high risk of developing hypogonadism as a result of not only the nature of the disease, but mainly its treatment. While leaving the patient with cancer without treatment does not fall within the concept of the art of medicine and the ethical canon of a physician, the symptoms of hypogonadism are often ignored and left untreated...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28323036/targeting-androgen-receptor-versus-targeting-androgens-to-suppress-castration-resistant-prostate-cancer
#10
Changcheng Guo, Shuyuan Yeh, Yuanjie Niu, Gonghui Li, Junhua Zheng, Lei Li, Chawnshang Chang
Prostate cancer (PCa) is the 2nd leading cause of cancer-related death among men in the United States and its progression is tightly associated with the androgen/androgen receptor (AR) signals. Men castrated before puberty (eunuchs) or men with inherited deficiency of type II 5α-reductase (with failure to convert testosterone to the more potent dihydrotestosterone) (DHT) do not develop PCa. To date, androgen deprivation therapy (ADT) with anti-androgen treatments to reduce or prevent androgens from binding to the AR remains the main therapeutic option for advanced PCa since its discovery by Huggins and Hodges in 1941...
July 1, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28295520/androgen-deficiency-impairs-erectile-function-in-rats-through-promotion-of-corporal-fibrosis
#11
K Cui, R Li, R Chen, M Li, T Wang, J Yang, Z Chen, S Wang, J Liu, K Rao
The aim of this study was to investigate the underlying mechanism of androgen deficiency inducing corporal fibrosis, thereby causing erectile dysfunction (ED). Forty 12-week-old healthy male rats were divided randomly into four groups: normal control group (Control); castration group (Castration); the other 20 rats were castrated followed by testosterone (T) (orally) each day: castration + 10mg/kg T group (Castration + 10T) and castration + 20 mg/kg T group (Castration + 20T). After 8 weeks' treatment, the main outcome measures were the following: serum levels of T; the ratios of intracavernous pressure (ICP) to mean arterial pressure (MAP); histologic changes in penile smooth muscle cells; the Smad and non-Smad pathways; and extracellular matrix (ECM) protein deposition...
March 10, 2017: Andrologia
https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#12
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28188961/high-serum-progesterone-associated-with-infertility-in-a-woman-with-nonclassic-congenital-adrenal-hyperplasia
#13
Yoshimasa Kawarai, Hiroshi Ishikawa, Tomoya Segawa, Shokichi Teramoto, Tomoaki Tanaka, Makio Shozu
Nonclassic congenital adrenal hyperplasia (NCAH) is an autosomal-recessive disorder caused by 21-hydroxylase deficiency and manifests as hirsutism and oligomenorrhea due to excess adrenal androgen and progesterone. We report a case of a woman with NCAH who showed continuous high serum progesterone levels in the follicular phase associated with impaired folliculogenesis. NCAH was diagnosed based on high 17-hydroxyprogesterone levels after rapid adrenocorticotropic hormone loading, and three heterozygous missense mutations in CYP21A2, encoding 21-hydroxylase, were identified...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28115639/combined-effects-of-gestational-phthalate-exposure-and-zinc-deficiency-on-steroid-metabolism-and-growth
#14
Johnathan R Nuttall, Heidi R Kucera, Suangsuda Supasai, Nilesh W Gaikwad, Patricia I Oteiza
Disruption of steroid hormone signaling has been implicated independently in the developmental abnormalities resulting from maternal phthalate plasticizer exposure and developmental zinc deficiency. This study investigated if secondary zinc deficiency may result from dietary exposure to a low level of di-2-ethylhexyl phthalate (DEHP) through gestation and if this could be associated with altered steroid metabolism. The interaction between marginal zinc nutrition and DEHP exposure to affect pregnancy outcome, zinc status, and steroid metabolism was also assessed...
April 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28038404/the-impact-of-flutamide-on-prostaglandin-f2%C3%AE-synthase-and-prostaglandin-f2%C3%AE-receptor-expression-and-prostaglandin-f2%C3%AE-concentration-in-the-porcine-corpus-luteum-of-pregnancy
#15
M Grzesiak, K Knapczyk-Stwora, M Slomczynska
Recently, we have indicated that flutamide-induced androgen deficiency diminished progesterone production in the porcine corpus luteum (CL) during late pregnancy and before parturition, as a sign of functional luteolysis. In pigs, the main luteolytic factor is prostaglandin F2α (PGF2α), which acts via specific receptors (PTGFRs), and its biosynthesis is catalyzed by prostaglandin F2α synthase (PGFS). The present study investigated the impact of flutamide on luteal PGFS and PTGFR expression, as well as intraluteal PGF2α content during pregnancy in pigs...
December 11, 2016: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/27999286/testosterone-deficiency-induces-changes-of-the-transcriptomes-of-visceral-adipose-tissue-in-miniature-pigs-fed-a-high-fat-and-high-cholesterol-diet
#16
Lifan Zhang, Yueqin Cai, Shengjuan Wei, Yun Ling, Liang Zhu, Dongfeng Li, Zhaowei Cai
Testosterone deficiency causes fat deposition, particularly in visceral fat, and its replacement might reverse fat accumulation, however, the underlying mechanisms of such processes under diet-induced adiposity are largely unknown. To gain insights into the genome-wide role of androgen on visceral adipose tissue (VAT), RNA-Seq was used to investigate testosterone deficiency induced changes of VAT in miniature pigs fed a high-fat and high-cholesterol (HFC) diet among intact male pigs (IM), castrated male pigs (CM), and castrated male pigs with testosterone replacement (CMT) treatments...
December 16, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27967205/gestational-hyperandrogenism-in-developmental-programming
#17
REVIEW
Christopher Hakim, Vasantha Padmanabhan, Arpita K Vyas
Androgen excess (hyperandrogenism) is a common endocrine disorder affecting women of reproductive age. The potential causes of androgen excess in women include polycystic ovary syndrome, congenital adrenal hyperplasia (CAH), adrenal tumors, and racial disparity among many others. During pregnancy, luteoma, placental aromatase deficiency, and fetal CAH are additional causes of gestational hyperandrogenism. The present report reviews the various phenotypes of hyperandrogenism during pregnancy and its origin, pathophysiology, and the effect of hyperandrogenism on the fetal developmental trajectory and offspring consequences...
February 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/27959413/17%C3%AE-%C3%A2-hydroxylase-17-20%C3%A2-lyase-deficiency-in-congenital-adrenal-hyperplasia-a-case-report
#18
Simiao Xu, Shuhong Hu, Xuefeng Yu, Muxun Zhang, Yan Yang
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27936533/endocrinology-update-testicular-hypogonadism
#19
REVIEW
Joel J Heidelbaugh
Testicular hypogonadism, or androgen deficiency, is defined as a clinical condition resulting from failure of the testes to produce physiologic levels of testosterone and a normal number of spermatozoa because of disruption of the hypothalamic-pituitary-gonadal axis. Testosterone deficiency (TD) is defined as a serum level less than 300 ng/dL on a morning total testosterone test. It is estimated that more than one-third of men 45 years and older have testosterone deficiency. Associated symptoms include decreased libido, erectile dysfunction, decreased physical stamina and strength, depressed mood, fatigue, increased visceral adiposity, sleep disturbance, and/or poor concentration and memory...
December 2016: FP Essentials
https://www.readbyqxmd.com/read/27936531/endocrinology-update-hirsutism
#20
REVIEW
Joel J Heidelbaugh
Hirsutism is defined as excessive terminal hair growth, such as coarse sexual or secondary hair, that typically appears in a male growth pattern in androgen-dependent areas of the female body. It can occur in men and women. Common etiologies include polycystic ovary syndrome, idiopathic hyperandrogenemia, idiopathic hirsutism, adrenal hyperplasia due to 21-hydroxylase deficiency, androgen-secreting tumors, iatrogenic hirsutism, acromegaly, Cushing syndrome, hyperprolactinemia, and hypo- or hyperthyroidism. Diagnostic guidelines are predominantly aimed at premenopausal women but an appropriate evaluation for underlying endocrinopathies in postmenopausal women and men may be required...
December 2016: FP Essentials
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