Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]
, 2010 Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique +7 more
core +2 more sources
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
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
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
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
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]
, 2017 With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F. +5 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
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.
core +1 more source
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
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.
core +1 more source