Results 11 to 20 of about 401,716 (213)
Congenital adrenal hyperplasia [PDF]
Medicinski Podmladak, 2021 Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal ...
Miolski Jelena +2 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,
Speiser, P. W.
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Living with congenital adrenal hyperplasia: insights on quality of life [PDF]
Frontiers in EndocrinologyIntroductionUnderstanding the quality of life (QoL) and factors associated with improved outcomes in individuals with classical congenital adrenal hyperplasia (CAH) can meaningfully inform clinical care.MethodsAdults and caregivers of children with ...
Athanasia Bouliari +6 more
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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
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Congenital adrenal hyperplasia
Clinical Biochemistry, 2011 Congenital adrenal hyperplasia (CAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features reflect the magnitude of the loss of function mutations.
Selma Feldman, Witchel, Ricardo, Azziz
core +5 more sources
Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management. [PDF]
Clin Endocrinol (Oxf)ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Mu J, Li Y, Sun M, Li Y, Li P, Zou H.
europepmc +2 more sources
Congenital lipoid adrenal hyperplasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein ...
Chan Jong Kim
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NonClassic Congenital Adrenal Hyperplasia [PDF]
International Journal of Pediatric Endocrinology, 2010 Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Witchel, Selma Feldman, Azziz, Ricardo
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CONGENITAL ADRENAL HYPERPLASIA
Urology Research and Practice, 2019 -
Kenan Karabay, Engin Öztan
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HYPOGLYCAEMIA AND CONGENITAL ADRENAL HYPERPLASIA
Acta Paediatrica, 1979 Abstract. We report the case history of a child with congenital adrenal hyperplasia which was complicated by recurrent hypoglycaemic episodes during common infections. There are few reports in literature on the association of hypoglycaemia and congenital adrenal hyperplasia.
Gemelli M, DE LUCA, Filippo, Barberio G.
openaire +4 more sources