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Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment
Quality in SportIntroduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński +9 more
doaj +1 more source
Endocrine, 2019 Purpose3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH.
Abdullah M Al Alawi +2 more
semanticscholar +1 more source
Congenital adrenal hyperplasia in men: classical form. Clinical case
Mìžnarodnij Endokrinologìčnij Žurnal, 2021 Recently, in the foreign scientific literature there have been reports that boys and young men with the classic virile form of congenital adrenal hyperplasia or congenital dysfunction of the adrenal cortex as a result of inadequate glucocorticoid therapy
P.M. Liashuk +2 more
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Increased Infection Risk in Addison’s Disease and Congenital Adrenal Hyperplasia
bioRxiv, 2019 Context Mortality and infection-related hospital admissions are increased in patients with primary adrenal insufficiency (PAI). However, the risk of primary care-managed infections in patients with PAI is unknown.
A. Tresoldi +8 more
semanticscholar +1 more source
CONGENITAL ADRENAL CORTEX HYPERPLASIA IN A NEWBORN (CLINICAL CASE)
Неонатологія, хірургія та перинатальна медицина, 2019 Congenital adrenal cortex hyperplasia combines a group of monogenic diseases with an autosomal recessive fashion based on defects in enzymes or transport proteins involved in adrenal steroidogenesis.
N.M. Kretsu +3 more
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Journal of the Endocrine Society, 2019 Management of congenital adrenal hyperplasia (CAH) requires both glucocorticoid replacement and suppression of adrenal androgen synthesis. It is recommended that children with CAH be treated with hydrocortisone, but the appropriate glucocorticoid regimen
Emma Whittle, H. Falhammar
semanticscholar +1 more source
Advanced Science, EarlyView.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li +22 more
wiley +1 more source
Jornal de Pediatria, 2019 Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases.
Cristiane Kopacek +8 more
doaj +3 more sources
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
BMC Pediatrics, 2022 Background Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging.
Yajie Tong +3 more
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