keyword
MENU ▼
Read by QxMD icon Read
search

3 beta hydroxysteroid dehydrogenase deficiency

keyword
https://www.readbyqxmd.com/read/27871307/current-models-of-care-for-disorders-of-sex-development-results-from-an-international-survey-of-specialist-centres
#1
Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S Faisal Ahmed
BACKGROUND: To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. RESULTS: A total of 78 (63 %) clinicians, in 75 centres, from 38 countries responded to the survey. A formal national network for managing DSD was reported to exist in 12 (32 %) countries...
November 21, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27796263/uniparental-isodisomy-of-chromosome-1-unmasking-an-autosomal-recessive-3-beta-hydroxysteroid-dehydrogenase-type-ii-related-congenital-adrenal-hyperplasia
#2
Karin Panzer, Osayame Ekhaguere, Benjamin Darbro, Cook Jennifer, Oleg Shchelochkov
BACKGROUND: Steroid 3-beta hydroxysteroid dehydrogenase type II deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia. We report the genetic basis of 3-beta hydroxysteroid dehydrogenase type II deficiency arising from uniparental isodisomy of chromosome 1. CLINICAL CASE: We describe a term undervirilized male whose newborn screen indicated borderline congenital adrenal hyperplasia. He presented on day of life 7 in salt-wasting adrenal crisis...
October 31, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27476613/testicular-adrenal-rest-tumor-in-brothers-with-novel-mutation-in-3-beta-hydroxysteroid-dehydrogenase-2-gene
#3
Ayla Güven, Seher Polat
OBJECTIVE: Testicular adrenal rest tumors (TART) have been frequently shown in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3β-hydroxysteroid dehydrogenase deficiency (HSD3β. METHODS: Biopsy proven TART was found at 31/12 years old in older brother while TART determined at 22 moths old in younger by USG. Hormonal and anthropometric measurements were performed during glucocorticoid and fludrocortisone treatment...
July 29, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27307783/46-xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-type-3-deficiency-a-plea-for-timely-genetic-testing
#4
Chelsey Grimbly, Oana Caluseriu, Peter Metcalfe, Mary M Jetha, Elizabeth T Rosolowsky
BACKGROUND: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8. CASE PRESENTATION: An otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/26465199/cardiomyocyte-and-vascular-smooth-muscle-independent-11%C3%AE-hydroxysteroid-dehydrogenase-1-amplifies-infarct-expansion-hypertrophy-and-the-development-of-heart-failure-after-myocardial-infarction-in-male-mice
#5
COMPARATIVE STUDY
Christopher I White, Maurits A Jansen, Kieran McGregor, Katie J Mylonas, Rachel V Richardson, Adrian Thomson, Carmel M Moran, Jonathan R Seckl, Brian R Walker, Karen E Chapman, Gillian A Gray
Global deficiency of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), an enzyme that regenerates glucocorticoids within cells, promotes angiogenesis, and reduces acute infarct expansion after myocardial infarction (MI), suggesting that 11β-HSD1 activity has an adverse influence on wound healing in the heart after MI. The present study investigated whether 11β-HSD1 deficiency could prevent the development of heart failure after MI and examined whether 11β-HSD1 deficiency in cardiomyocytes and vascular smooth muscle cells confers this protection...
January 2016: Endocrinology
https://www.readbyqxmd.com/read/25668066/combined-loss-of-the-gata4-and-gata6-transcription-factors-in-male-mice-disrupts-testicular-development-and-confers-adrenal-like-function-in-the-testes
#6
Maria B Padua, Tianyu Jiang, Deborah A Morse, Shawna C Fox, Heather M Hatch, Sergei G Tevosian
The roles of the GATA4 and GATA6 transcription factors in testis development were examined by simultaneously ablating Gata4 and Gata6 with Sf1Cre (Nr5a1Cre). The deletion of both genes resulted in a striking testicular phenotype. Embryonic Sf1Cre; Gata4(flox/flox) Gata6(flox/flox) (conditional double mutant) testes were smaller than control organs and contained irregular testis cords and fewer gonocytes. Gene expression analysis revealed significant down-regulation of Dmrt1 and Mvh. Surprisingly, Amh expression was strongly up-regulated and remained high beyond postnatal day 7, when it is normally extinguished...
May 2015: Endocrinology
https://www.readbyqxmd.com/read/25614240/diurnal-and-stress-induced-intra-hippocampal-corticosterone-rise-attenuated-in-11%C3%AE-hsd1-deficient-mice-a-microdialysis-study-in-young-and-aged-mice
#7
Joyce L W Yau, June Noble, Christopher J Kenyon, Mike Ludwig, Jonathan R Seckl
11β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1) locally regenerates active glucocorticoids from their inert forms thereby amplifying intracellular levels within target tissues including the brain. We previously showed greater increases in intra-hippocampal corticosterone (CORT) levels upon Y-maze testing in aged wild-type than in 11β-HSD1(-/-) mice coinciding with impaired and intact spatial memory, respectively. Here we examined whether ageing influences 11β-HSD1 regulation of CORT in the dorsal hippocampus under basal conditions during the diurnal cycle and following stress...
March 2015: European Journal of Neuroscience
https://www.readbyqxmd.com/read/25111118/genotype-based-databases-for-variants-causing-rare-diseases
#8
Barbara Lanthaler, Stefanie Wieser, Andrea Deutschmann, Anna Schossig, Christine Fauth, Johannes Zschocke, Martina Witsch-Baumgartner
Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which may be predicted by the genotype. Additional effects may be triggered by environmental factors, as well as genetic modifiers which could be nucleotide polymorphisms in related genes, e.g. maternal ApoE or ABCA1 genotypes which may have an influence on the phenotype of SLOS individuals...
October 15, 2014: Gene
https://www.readbyqxmd.com/read/25013996/short-term-low-dose-gh-therapy-improves-insulin-sensitivity-without-modifying-cortisol-metabolism-and-ectopic-fat-accumulation-in-adults-with-gh-deficiency
#9
RANDOMIZED CONTROLLED TRIAL
Kevin C J Yuen, Charles T Roberts, Jan Frystyk, William D Rooney, James R Pollaro, Bethany J Klopfenstein, Jonathan Q Purnell
CONTEXT: Low-dose GH (LGH) therapy has been reported to improve insulin sensitivity in GH-deficient adults; however, the mechanism is unclear. HYPOTHESIS: Effects of LGH therapy on insulin sensitivity are mediated through changes in cortisol metabolism and ectopic fat accumulation. DESIGN AND SETTING: This was a double-blind, placebo-controlled, parallel, 3-month study. PARTICIPANTS AND INTERVENTION: Seventeen GH-deficient adults were randomized to receive either daily LGH or placebo injections...
October 2014: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/24628555/vitamin-d-alters-genes-involved-in-follicular-development-and-steroidogenesis-in-human-cumulus-granulosa-cells
#10
Zaher Merhi, Angela Doswell, Kendall Krebs, Marilyn Cipolla
CONTEXT: Vitamin D deficiency is common among reproductive-aged women and has a role in female reproduction. OBJECTIVE: This study evaluated the role of 1,25-dihydroxyvitamin D3 (vit D3) in ovarian follicular development and steroidogenesis by using a human granulosa cell (GC) model. DESIGN, SETTING, AND PARTICIPANTS: Fifty-four women who underwent in vitro fertilization were enrolled. INTERVENTION: Follicular fluid (FF) and mural and cumulus GCs were collected from small and large follicles...
June 2014: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/24575652/-contemporary-diagnosis-and-therapy-in-women-with-congenital-adrenal-hyperplasia
#11
REVIEW
Marzena Maciejewska-Jeske, Błazej Meczekalski
Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. The other seldom cortisol synthesis abnormalities include deficiencies of: 11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase, 17beta-hydroxylase, 17,20-lase and 11 beta-hydroxysteroid dwehydrogenase type 1. There are three main types, depending on the clinical level of 21-hydroxylase deficiency: (1) classical form--salt-wasting CAH (2) the classical form non- salt-wasting (3) non-classical form...
November 2013: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/24427280/a-calcium-deficient-diet-in-rat-dams-during-gestation-and-nursing-affects-hepatic-11%C3%AE-hydroxysteroid-dehydrogenase-1-expression-in-the-offspring
#12
Junji Takaya, Sohsaku Yamanouchi, Kazunari Kaneko
BACKGROUND: Prenatal malnutrition can affect the phenotype of offspring by changing epigenetic regulation of specific genes. Several lines of evidence demonstrate that calcium (Ca) plays an important role in the pathogenesis of insulin resistance syndrome. We hypothesized that pregnant female rats fed a Ca-deficient diet would have offspring with altered hepatic glucocorticoid-related gene expression and that lactation would modify these alterations. METHODOLOGY: We determined the effects of Ca deficiency during pregnancy and/or lactation on hepatic 11β-hydroxysteroid dehydrogenase-1 (Hsd11b1) expression in offspring...
2014: PloS One
https://www.readbyqxmd.com/read/24176236/a-calcium-deficient-diet-in-pregnant-nursing-rats-induces-hypomethylation-of-specific-cytosines-in-the-11%C3%AE-hydroxysteroid-dehydrogenase-1-promoter-in-pup-liver
#13
Junji Takaya, Anna Iharada, Hiroyuki Okihana, Kazunari Kaneko
Prenatal undernutrition affects offspring phenotype via changes in the epigenetic regulation of specific genes. We hypothesized that pregnant females that were fed a calcium (Ca)-deficient diet would have offspring with altered hepatic glucocorticoid-related gene expression and altered epigenetic gene regulation. Female Wistar rats ate either a Ca-deficient or control diet from 3 weeks before conception to 21 days after parturition. Pups were allowed to nurse from their original mothers and then euthanized on day 21...
November 2013: Nutrition Research
https://www.readbyqxmd.com/read/24025400/elevated-periimplantation-uterine-natural-killer-cell-density-in-human-endometrium-is-associated-with-impaired-corticosteroid-signaling-in-decidualizing-stromal-cells
#14
Keiji Kuroda, Radha Venkatakrishnan, Sean James, Sandra Šucurovic, Biserka Mulac-Jericevic, Emma S Lucas, Satoru Takeda, Anatoly Shmygol, Jan J Brosens, Siobhan Quenby
BACKGROUND: Decidualizing human endometrial stromal cells (HESCs) profoundly up-regulate 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), the enzyme that converts inert cortisone to active cortisol. We postulated that the induction of a cortisol gradient upon decidualization of the periimplantation endometrium may impact on the uterine natural killer (uNK) cell population and on local expression of corticosteroid-dependent target genes. METHODS: Midluteal endometrial biopsies (n = 55) were processed for uNK cell (CD56) analysis and primary HESC cultures...
November 2013: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/23796702/a-novel-nonsense-mutation-in-exon-1-of-hsd17b3-gene-in-an-egyptian-46-xy-adult-female-presenting-with-primary-amenorrhea
#15
H A Hassan, I Mazen, Y Z Gad, O S M Ali, M Mekkawy, M L Essawi
17-β-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46,XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46,XY karyotype and low testosterone/Δ4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of HSD17B3 gene was performed. The patient had a homozygous mutation c...
2013: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/23329753/apparent-mineralocorticoid-excess-syndrome-report-of-one-family-with-three-affected-children
#16
Taiba Al-Harbi, Adnan Al-Shaikh
The syndrome of apparent mineralocorticoid excess (AME) is an autosomal recessive disorder characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. It is caused by deficiency of 11β-hydroxysteroid dehydrogenase, which results in a defect of the peripheral metabolism of cortisol to cortisone. As a consequence, the serum cortisol half-life (T½) is prolonged, ACTH is suppressed, and serum cortisol concentration is normal. The hormonal diagnosis of the disorder is made by the increased ratio of urine-free cortisol to cortisone...
2012: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/22876557/17beta-hydroxysteroid-dehydrogenase-type-3-deficiency-as-a-result-of-a-homozygous-7-base-pair-deletion-in-17betahsd3-gene
#17
Ayfer Alikasifoglu, Olaf Hiort, Nazli Gonc, Huseyin Demirbilek, Emregul Isik, Nurgun Kandemir
17-beta-Hydroxysteroid dehydrogenase type 3 (17betaHSD-3) converts delta4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17betaHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17betaHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c...
2012: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/22857144/overview-of-genetic-defects-in-endocrinopathies-in-the-island-of-cyprus-evidence-of-a-founder-effect
#18
REVIEW
Christos Shammas, Vassos Neocleous, Meropi Toumba, Constantina Costi, Alexia A P Phedonos, Elisavet Efstathiou, Andreas Kyriakou, Leonidas A Phylactou, Nicos Skordis
AIM: Hereditary endocrinopathies in Cyprus exhibit evidence of a founder effect and display the influence of past migration patterns. The genetic frequency and mutation pattern of a specific disorder of sex development (DSD), which is classified as 46,XX DSD or 46,XY DSD, and the non-classic form of congenital adrenal hyperplasia (NC-CAH) outline a type of genetic drift. RESULTS: Not only the high prevalence of the NC-CAH p.V281L mutation but also the rarity of CAH large lesions present a genetic diversity similar to that observed in the Middle Eastern countries...
September 2012: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/22581459/inactivation-of-ampk%C3%AE-1-induces-asthenozoospermia-and-alters-spermatozoa-morphology
#19
Pauline Tartarin, Edith Guibert, Aminata Touré, Claire Ouiste, Jocelyne Leclerc, Nieves Sanz, Sylvain Brière, Jean-Louis Dacheux, Bernadette Delaleu, Judith R McNeilly, Alan S McNeilly, Jean-Pierre Brillard, Joëlle Dupont, Marc Foretz, Benoit Viollet, Pascal Froment
AMP-activated protein kinase (AMPK), a key regulator of cellular energy homeostasis, is present in metabolic tissues (muscle and liver) and has been identified as a modulator of the female reproductive functions. However, its function in the testis has not yet been clearly defined. We have investigated the potential role of AMPK in male reproduction by using transgenic mice lacking the activity of AMPK catalytic subunit α1 gene [α1AMPK knockout (KO)]. In the testis, the α1AMPK subunit is expressed in germ cells and also in somatic cells (Sertoli and Leydig cells)...
July 2012: Endocrinology
https://www.readbyqxmd.com/read/22579964/in-silico-structural-functional-and-pathogenicity-evaluation-of-a-novel-mutation-an-overview-of-hsd3b2-gene-mutations
#20
Bahareh Rabbani, Nejat Mahdieh, Mohammad Taghi Haghi Ashtiani, Aria Setoodeh, Ali Rabbani
Mutations of 3 beta hydroxysteroid dehydrogenase type II (HSD3B2) gene result in different clinical consequences. We explain a patient who demonstrated a salt wasting form of 3βHSD deficiency in infancy. Signs of hyponatremia and hyperkalemia were recognized in the infant with ambiguous genitalia and perineal hypospadias. The 46,XY male was genotyped by direct sequencing of HSD3B2 gene. Steroid profiles showed elevated concentration of 17 hydroxyprogesterone, and decrease in concentration of cortisol, and testosterone...
July 25, 2012: Gene
keyword
keyword
109577
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"