Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review
Sexes, 2023 Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci +7 more
doaj +1 more source
Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]
, 2010 Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
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Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia [PDF]
, 2020 Context: Classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency results in hormone imbalances present both prenatally and postnatally that may impact the developing brain.
Azad, Anisa +5 more
core
Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]
, 2011 Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
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BMC Research Notes, 2019 Objective Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the flanking TNXB gene resulting in CAH-X, a contiguous gene deletion syndrome.
Vipula Kolli +6 more
doaj +1 more source
Newborn Screening in Pediatric Endocrine Disorders
Endocrines, 2022 Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes.
Martin Draznin +2 more
doaj +1 more source
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
, 2017 Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: To study mortality and causes of death in CAH.
Almqvist, C. +6 more
core +1 more source
El empleo especializado de la preposición con en el español moderno
A&H, 2017 En este trabajo se presenta el análisis diacrónico del empleo de la preposición con en frases construidas con verbos de dirección (Dixon, 1991) + con + una meta o fuente humana: voy a casa con tu mamá y vengo de con tu mamá.
María Luisa Álvarez Medina
doaj +2 more sources
Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia
JCRPE, 2023 INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis.
Marianne Jacob +5 more
doaj +1 more source
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia [PDF]
, 1999 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.
Barta, Csaba +8 more
core +1 more source