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Androgen deficiency: causes

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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
#1
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...
February 16, 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
#2
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
#3
J Nuttall, H R Kucera, S Supasai, N W Gaikwad, P 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 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...
January 23, 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
#4
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
#5
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
#6
C Hakim, V Padmanabhan, A K Vyas
Androgen excess (hyperandrogenism) is a common endocrine disorder affecting women of reproductive age. Potential causes of androgen excess in women include: polycystic ovary syndrome, congenital adrenal hyperplasia (CAH), adrenal tumors, and racial disparity amongst many others. During pregnancy, luteoma, placental aromatase deficiency, and fetal CAH are additional causes of gestational hyperandrogenism. This paper reviews the various phenotypes of hyperandrogenism during pregnancy, its origin, pathophysiology, and the impact of hyperandrogenism on fetal developmental trajectory and offspring consequences...
December 14, 2016: 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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27928728/clinical-perspectives-in-congenital-adrenal-hyperplasia-due-to-11%C3%AE-hydroxylase-deficiency
#10
REVIEW
Krupali Bulsari, Henrik Falhammar
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens...
January 2017: Endocrine
https://www.readbyqxmd.com/read/27897410/androgen-deprivation-causes-selective-deficits-in-the-biomechanical-leg-muscle-function-of-men-during-walking-a-prospective-case-control-study
#11
Ada S Cheung, Hans Gray, Anthony G Schache, Rudolf Hoermann, Daryl Lim Joon, Jeffrey D Zajac, Marcus G Pandy, Mathis Grossmann
BACKGROUND: Although muscle mass declines with testosterone deficiency in men, previous studies of muscle function have not demonstrated consistent deficits, likely due to relatively insensitive methodology. Our objective was to determine the effects of testosterone deprivation on the biomechanical function of individual lower-limb muscles. METHODS: We conducted a 12-month prospective, observational case-control study of 34 men newly commencing androgen deprivation treatment (ADT) for prostate cancer and 29 age-matched prostate cancer controls...
August 2, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27863287/bone-health-in-the-elderly-cancer-patient-a-siog-position-paper
#12
REVIEW
J J Body, E Terpos, B Tombal, P Hadji, A Arif, A Young, M Aapro, R Coleman
More than a third of cancers are diagnosed in people over the age of 75. Androgen deprivation for prostate cancer and aromatase inhibitors in breast cancer accelerate age-related bone loss and increase fracture rates. BMD should be checked by dual energy X-ray absorptiometry at baseline and, dependent on risk, every 12-24months. Sufficient calcium, vitamin D and exercise are part of primary fracture prevention. Resistance exercise in particular may improve functional activity and bone density. In men at increased fracture risk and women with postmenopausal early breast cancer, antiresorptive treatment is warranted to reduce fracture rate and to increase overall survival in breast cancer...
December 2016: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/27849622/novel-mutations-of-the-srd5a2-and-ar-genes-in-thai-patients-with-46-xy-disorders-of-sex-development
#13
Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27842977/reprint-of-steroid-5%C3%AE-reductase-2-deficiency
#14
REVIEW
Berenice B Mendonca, Rafael Loch Batista, Sorahia Domenice, Elaine M F Costa, Ivo J P Arnhold, David W Russell, Jean D Wilson
Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5α-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are common, but Mullerian ducts regress, and the internal urogenital tract is male. Most affected males are raised as females, but virilization occurs at puberty, and male social sex develops thereafter with high frequency...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27734705/-testosterone-and-mortality
#15
Luboslav Stárka
Subnormal levels of testosterone are frequently found in men of higher age category. Hypogonadal men have lower life expectancy than men with full androgenization and cardiovascular disease, obesity or diabetes is often associated with hypotestosteronemia. Low testosterone level is risk factor for these diseases. However, until now it is not clear whether testosterone deficiency is a cause or consequence of atherosclerosis or metabolic syndrome. A handful of symptoms and metabolic risk markers in hypogonadal men can be ameliorated by testosterone supplementation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27717934/-definitions-destruction-of-endothelial-cells-as-a-marker-of-endothelial-dysfunction-in-aging-men
#16
Ганна Л Пустовойт, Тетяна І Ярмола, Олександр В Мохначов, Лідія А Ткаченко, Сергій М Супруненко
INTRODUCTION: Ukraine occupies the 143 place in the world in life expectancy and the first place in terms of mortality. The main cause of death - cardiovascular diseases - 58%. Recent studies show the important and independent role of endothelium in the development of cardiovascular disease. THE AIM: examination of the endothelium destruction in aging men by determining the level of surface specific antigens of endothelial microparticles. MATERIALS AND METHODS: 88 men age from 45 to 76 years...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27703340/a-concise-review-of-testosterone-and-bone-health
#17
REVIEW
Nur-Vaizura Mohamad, Ima-Nirwana Soelaiman, Kok-Yong Chin
Osteoporosis is a condition causing significant morbidity and mortality in the elderly population worldwide. Age-related testosterone deficiency is the most important factor of bone loss in elderly men. Androgen can influence bone health by binding to androgen receptors directly or to estrogen receptors (ERs) indirectly via aromatization to estrogen. This review summarized the direct and indirect effects of androgens on bone derived from in vitro, in vivo, and human studies. Cellular studies showed that androgen stimulated the proliferation of preosteoblasts and differentiation of osteoblasts...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27626911/non-virilizing-congenital-adrenal-hyperplasia-in-a-female-patient-with-a-novel-hsd3b2-mutation
#18
Ursina Probst-Scheidegger, Sameer S Udhane, Dagmar l'Allemand, Christa E Flück, Núria Camats
Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade. Two loss-of-function HSD3B2 mutations (1 novel) were detected and confirmed in silico...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27545660/lower-body-weight-and-bmi-at-birth-were-associated-with-early-adiposity-rebound-in-21-hydroxylase-deficiency-patients
#19
Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada
21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. In addition to the clinical problems caused by adrenal insufficiency and androgen excess, a risk for obesity and metabolic syndrome during young adulthood is a major ramification of the disease. Although glucocorticoid therapy is very likely to be one of the contributory factors, the precise causes of the metabolic status of adult 21-OHD patients remain to be clarified. Previously we reported that 21-OHD patients developed early onset AR, a condition which might create a risk for obesity and metabolic syndrome in adulthood...
November 30, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27501740/aetiology-and-clinical-profile-of-children-with-46-xy-differences-of-sex-development-at-an-indian-referral-centre
#20
V Chauhan, R Dada, V Jain
46, XY differences of sex development (DSD) constitute a heterogenous group of rare genetic defects. Definitive aetiological diagnosis cannot be made in more than half of these cases. The aim of our study was to prospectively evaluate and assign a probable diagnosis based on clinical and biochemical parameters in children with 46, XY DSD. Prospective clinical and biochemical screening was performed in a series of 46, XY children referred to paediatric endocrine services of our centre. Forty children with 46, XY DSD were investigated, and presumptive aetiological diagnoses of 5-alpha reductase deficiency (5αRD), partial gonadal dysgenesis (PGD), partial androgen insensitivity syndrome (PAIS), congenital bilateral anorchia (CBA), congenital lipoid adrenal hyperplasia (CLAH), ovotesticular DSD (OT-DSD) and Frasier syndrome (FS) were made...
August 8, 2016: Andrologia
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