Literature DB >> 30272171

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

Phyllis W Speiser1,2, Wiebke Arlt3, Richard J Auchus4, Laurence S Baskin5, Gerard S Conway6, Deborah P Merke7,8, Heino F L Meyer-Bahlburg9, Walter L Miller5, M Hassan Murad10, Sharon E Oberfield11, Perrin C White12.   

Abstract

Objective: To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010. Conclusions: The writing committee presents updated best practice guidelines for the clinical management of congenital adrenal hyperplasia based on published evidence and expert opinion with added considerations for patient safety, quality of life, cost, and utilization.

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Year:  2018        PMID： 30272171      PMCID： PMC6456929          DOI： 10.1210/jc.2018-01865

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


  381 in total

1.  Non-invasive prenatal determination of fetal sex: translating research into clinical practice.

Authors:  M Hill; K Finning; P Martin; J Hogg; C Meaney; G Norbury; G Daniels; L S Chitty
Journal:  Clin Genet       Date:  2010-09-15       Impact factor: 4.438

2.  Impaired quality of life in patients in long-term remission of Cushing's syndrome of both adrenal and pituitary origin: a remaining effect of long-standing hypercortisolism?

Authors:  M A E M Wagenmakers; R T Netea-Maier; J B Prins; T Dekkers; M den Heijer; A R M M Hermus
Journal:  Eur J Endocrinol       Date:  2012-08-30       Impact factor: 6.664

Review 3.  Glucocorticoids and fetal programming part 1: Outcomes.

Authors:  Vasilis G Moisiadis; Stephen G Matthews
Journal:  Nat Rev Endocrinol       Date:  2014-05-27       Impact factor: 43.330

4.  Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.

Authors:  Y P Yang; N Corley; J Garcia-Heras
Journal:  Mol Diagn       Date:  2001-09

5.  Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

Authors:  H Blanché; P Vexiau; S Clauin; I Le Gall; J Fiet; E Mornet; J Dausset; C Bellanné-Chantelot
Journal:  Hum Genet       Date:  1997-11       Impact factor: 4.132

6.  Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.

Authors:  Mariela Larrandaburu; Ursula Matte; Ana Noble; Zully Olivera; Maria Teresa V Sanseverino; Luis Nacul; Lavinia Schuler-Faccini
Journal:  J Community Genet       Date:  2015-05-29

7.  Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.

Authors:  T Tajima; T Okada; X M Ma; W Ramsey; S Bornstein; G Aguilera
Journal:  Gene Ther       Date:  1999-11       Impact factor: 5.250

8.  Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?

Authors:  Athanasia Stoupa; Laura González-Briceño; Graziella Pinto; Dinane Samara-Boustani; Caroline Thalassinos; Isabelle Flechtner; Jacques Beltrand; Maud Bidet; Albane Simon; Marie Piketty; Kathleen Laborde; Yves Morel; Christine Bellanné-Chantelot; Philippe Touraine; Michel Polak
Journal:  Horm Res Paediatr       Date:  2015-02-07       Impact factor: 2.852

9.  Linking Prenatal Androgens to Gender-Related Attitudes, Identity, and Activities: Evidence From Girls With Congenital Adrenal Hyperplasia.

Authors:  Joyce J Endendijk; Adriene M Beltz; Susan M McHale; Kristina Bryk; Sheri A Berenbaum
Journal:  Arch Sex Behav       Date:  2016-03-03

10.  Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour.

Authors:  Melissa Hines; Vickie Pasterski; Debra Spencer; Sharon Neufeld; Praveetha Patalay; Peter C Hindmarsh; Ieuan A Hughes; Carlo L Acerini
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2016-02-01       Impact factor: 6.237
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  175 in total

1.  High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.

Authors:  Qizong Lao; Brittany Brookner; Deborah P Merke
Journal:  J Mol Diagn       Date:  2019-06-21       Impact factor: 5.568

Review 2.  Towards improved genetic diagnosis of human differences of sex development.

Authors:  Emmanuèle C Délot; Eric Vilain
Journal:  Nat Rev Genet       Date:  2021-06-03       Impact factor: 53.242

3.  Optimizing Stature in Congenital Adrenal Hyperplasia: Challenges and Solutions.

Authors:  Anju Seth
Journal:  Indian J Pediatr       Date:  2019-04-27       Impact factor: 1.967

Review 4.  Glucocorticoids in pregnancy.

Authors:  Riccardo Pofi; Jeremy W Tomlinson
Journal:  Obstet Med       Date:  2019-06-09

Review 5.  The way toward adulthood for females with nonclassic congenital adrenal hyperplasia.

Authors:  Georgia Ntali; Sokratis Charisis; Christo F Kylafi; Evangelia Vogiatzi; Lina Michala
Journal:  Endocrine       Date:  2021-04-14       Impact factor: 3.633

6.  Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  Qizong Lao; Marcia Des Jardin; Rahul Jayakrishnan; Monique Ernst; Deborah P Merke
Journal:  Hum Genet       Date:  2018-11-21       Impact factor: 4.132

7.  Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".

Authors:  Phyllis W Speiser; Richard J Auchus; Deborah P Merke; Walter L Miller; Perrin C White
Journal:  J Clin Endocrinol Metab       Date:  2019-06-01       Impact factor: 5.958

Review 8.  Congenital Adrenal Hyperplasia and Growth Outcomes.

Authors:  Rajni Sharma
Journal:  Indian J Pediatr       Date:  2019-01-04       Impact factor: 1.967

9.  Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.

Authors:  Eugenio Arteaga; Felipe Valenzuela; Carlos F Lagos; Marcela Lagos; Alejandra Martinez; Rene Baudrand; Cristian Carvajal; Carlos E Fardella
Journal:  Endocrine       Date:  2019-09-30       Impact factor: 3.633

Review 10.  Steroid biomarkers in human adrenal disease.

Authors:  Juilee Rege; Adina F Turcu; Tobias Else; Richard J Auchus; William E Rainey
Journal:  J Steroid Biochem Mol Biol       Date:  2019-01-29       Impact factor: 4.292
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