Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

ConclusionThe result will contribute in further understanding the genotype ‐phenotype relationship of CAH patients and to guide better treatment and management of the affected.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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CONCLUSIONS: This study replicates previous findings of smaller medial temporal lobe volumes in CAH patients, and suggests that lateral nucleus of the amygdala, as well as subiculum and subfield CA1 of the hippocampus are particularly affected within the medial temporal lobes in CAH youth. PMID: 31950148 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
Abstract We retrospectively analyzed clinic records of 55 children (36 girls) with precocious puberty. Majority (34, 62%) had central precocious puberty, out of which 19 were idiopathic. Peripheral precocious puberty was seen in 14 children. Congenital adrenal hyperplasia was the commonest cause of peripheral precocious puberty (6, 42.8%). PMID: 31937701 [PubMed - in process]
Source: Indian Pediatrics - Category: Pediatrics Authors: Tags: Indian Pediatr Source Type: research
Abstract Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguous genitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to a missed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening for CAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestational age is also suggested. The protocol also recommends a two-tier proto...
Source: Indian Pediatrics - Category: Pediatrics Authors: Tags: Indian Pediatr Source Type: research
CONCLUSION: Children and adolescents with CAH who were diagnosed early via a neonatal screening program and treated with hydrocortisone had normal psychometric intelligence and executive functions. PMID: 31927590 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research
According to a study published inClinical Endocrinology, high doses of glucocorticoids for treating adults with congenital adrenal hyperplasia may be linked to lower bone mineral density.Healio
Source: Society for Endocrinology - Category: Endocrinology Source Type: news
AbstractSummaryThe congenital adrenal hyperplasia population seems to have an intrinsic tendency to a high frequency of low bone mass. However in this single-center and long-term evaluated cohort, the simplified corticoid regimen, with exclusive dexamethasone single dose reposition during adulthood, did not represent a risk factor for decrease in bone health.IntroductionThe impact of long-term and supposedly physiological doses of gluco and mineralocorticoid (GC/MC) on bone mineral density (BMD) in congenital adrenal hyperplasia (CAH) remains discordant among studies, which contain different clinical forms and corticoid re...
Source: Osteoporosis International - Category: Orthopaedics Source Type: research
In conclusion, patients who were born before neonatal screening for CAH became the mainstay, who are suspected to have CAH from their history, and present with abdominal pain must be diagnosed by performing an imaging study, testing levels of serum 17-OH-PG, and screening for female genitalia and adrenal gland myelolipoma.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no rep...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Endocrine Practice, Ahead of Print.
Source: Endocrine Practice - Category: Endocrinology Authors: Source Type: research
ConclusionExploring children ’s views about living with an invisible illness illuminated individual aspects contributing to our in-depth understanding of experiences of children with CAH. Ongoing education and awareness of CAH is necessary to help mitigate the stigma associated with living with CAH.
Source: Quality of Life Research - Category: Health Management Source Type: research
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