Unique Study Highlights Importance Of Universal Newborn Screening For Lethal Genetic Disorder

Contrary to current belief, routine newborn screening improves the detection of the lethal form of congenital adrenal hyperplasia (CAH) in girls as well as boys, saving lives in both sexes, according to a unique study of CAH during the last 100 years published Online First in The Lancet Diabetes and Endocrinology. Babies are routinely screened for CAH in most developed countries, but this is not yet the case in all countries, including the UK and Australia...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Pediatrics / Children's Health Source Type: news

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Publication date: October 2019Source: Canadian Journal of Diabetes, Volume 43, Issue 7, SupplementAuthor(s): Erin Miller, Janine Malcolm, Erin Keely
Source: Canadian Journal of Diabetes - Category: Endocrinology Source Type: research
This study examined the potential impact of congenital adrenal hyperplasia on sexuality among male patients. What have we learned?Journal of the Endocrine Society
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news
Exp Clin Endocrinol Diabetes 2019; 127: 171-177 DOI: 10.1055/a-0820-2085The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early diagnosis and optimised pediatric care not only successfully led to survival but also allow that almost all patients reach adulthood. Cohort studies in adults, however, provided evidence for significant health problems and co-morbidities of adult patients such as life-threatening adrenal crises, cardiova...
Source: Experimental and Clinical Endocrinology and Diabetes - Category: Endocrinology Authors: Tags: Review Source Type: research
This article reviews these arguments using an ethical framework and discusses the application and challenges of recent disorders of sex development research. Recent findings Recent ethics literature and advocacy groups have argued for deferring genitoplasty until a child reaches decisional maturity. As a counterpoint, urological societies have published arguments supporting the practice of early genitoplasty. Data from DSD research lends some guidance but also has a wide range of outcomes, which makes generalizability difficult. A retrospective, multicenter study of 21 individuals with congenital adrenal hyperplasia who...
Source: Current Opinion in Endocrinology, Diabetes and Obesity - Category: Endocrinology Tags: GROWTH AND DEVELOPMENT: Edited by Lynne L. Levitsky Source Type: research
Discussion Potassium (K+) is an alkali metal (Group 1 of periodic table with Hydrogen, Lithium and Sodium) with an anatomic number of 19. Its chemical symbol K, comes from the medieval Latin, kalium which means potash (mainly potassium carbonate or potassium hydroxide), the substance it was first isolated from. Potassium is an important cation and it mainly resides in the intracellular fluid with only a small amount in the extracellular fluid. Potassium regulates cell volume, pH and enzyme functions. Hyperkalemia is defined as a potassium level> 5.5 mEq/L in children and> 6.0 mEq/L in newborns. Hyperkalemia incre...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-lin...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Purpose of review Monogenic disorders play significant roles in the pathogenesis of childhood-onset primary adrenal insufficiency (PAI). The most common form of PAI is congenital adrenal hyperplasia (CAH), which includes the enzymatic defects of the steroidogenic pathway. This review focuses on less common forms of monogenic PAI (i.e. non-CAH monogenic PAI) with particular attention on their cause, clinical phenotypes and genetic epidemiology. Recent findings Non-CAH monogenic PAI can be classified into three major categories: first, adrenocorticotropic hormone resistance, second, impaired adrenal redox homeostasis an...
Source: Current Opinion in Endocrinology, Diabetes and Obesity - Category: Endocrinology Tags: ADRENAL CORTEX AND MEDULLA: Edited by Anand Vaidya Source Type: research
Purpose of review Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. Recent findings The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative ‘backdoor’ metabolic pathway for adrenal androgen synthesis and the secretion of 11-hydroxy and 11-keto analogs of known androgens, by the elucidation of hundreds of new mutations, and by the application of high-throughput sequencing techniques to noninvasive prenatal diagno...
Source: Current Opinion in Endocrinology, Diabetes and Obesity - Category: Endocrinology Tags: ADRENAL CORTEX AND MEDULLA: Edited by Anand Vaidya Source Type: research
Conclusions: Saliva contains molecular information worthy of interrogation via EWAS. The simplicity of specimen collection suggests that saliva offers a practical alternative to blood for measurements that can be used to characterize individual exposomes. https://doi.org/10.1289/EHP1011 Received: 23 August 2016 Revised: 08 November 2016 Accepted: 18 November 2016 Published: 20 July 2017 Address correspondence to V. Bessonneau, Silent Spring Institute, 320 Nevada St., Suite 302, Newton, Massachusetts 02460 USA. Telephone: (617) 332-4288. Email: vincent.bessonneau@gmail.com The authors declare they have no actual or po...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Source Type: research
by Haikun Liu, Dongsheng Guo, Aynisahan Ruzi, Yan Chen, Tingcai Pan, Fan Yang, Jialiang Li, Kecheng Xu, Tiancheng Zhou, Dajiang Qin, Yin-xiong Li Human induced pluripotent stem cells (hiPSCs) may provide potential resource for regenerative medicine research, including generation of insulin-producing cells for diabetes research and insulin production. Testosterone (T) is an androgen hormone which promotes protein synthesis and improves the m anagement of type 2 diabetes in clinical studies. Concurrently, co-existed hyperandrogenism and hyperinsulinism is frequently observed in polycystic ovary syndrome, congenital adrenal ...
Source: PLoS One - Category: Biomedical Science Authors: Source Type: research
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