Results 21 to 30 of about 32,144 (200)
Congenital adrenal hyperplasia [PDF]
Dermato-Endocrinology, 2009 Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency.
Dessinioti, Cleo, Katsambas, Andreas
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Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY
Frontiers in Genetics, 2022 Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song +12 more
doaj +1 more source
NEUROBLASTOMA IN A CASE OF CONGENITAL ADRENAL HYPERPLASIA
Hematology, Transfusion and Cell Therapy, 2021 Case report: The majority of neuroblastomas are sporadic and not correlated with any specific constitutional germline chromosomal abnormality, inherited predisposition, or associated congenital anomalies.
Arzu Yazal Erdem +5 more
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Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
Journal of Nepal Medical Association, 2020 Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal +3 more
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Congenital Adrenal Hyperplasia [PDF]
F1000Research, 2015 Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years,
PSN Menon, Anurag Bajpai
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SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION [PDF]
Romanian Journal of Pediatrics, 2017 Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease.
Roxana Tanase +5 more
doaj +1 more source
2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria [PDF]
, 2020 Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal ...
Fazeli, Nasrin +4 more
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Праці Наукового товариства імені Шевченка. Медичні науки, 2017 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi ciency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone ...
Anna Nowak
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Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]
, 2018 Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio +25 more
core +2 more sources
Syrian females with congenital adrenal hyperplasia: a case series
Journal of Medical Case Reports, 2022 Background One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing ...
Nada Dehneh +4 more
doaj +1 more source