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Congenital Adrenal Hyperplasia
Pediatrics in ReviewWe describe congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the most common primary adrenal insufficiency in children and adolescents. In this comprehensive review of CAH, we describe presentations at different life stages
Sharma L, Momodu II, Singh G.
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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 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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Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report [PDF]
Journal of Medical Case ReportsBackground Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens.
Alaina P. Vidmar +9 more
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Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management.
Endocrine reviews, 2021 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of ...
H. Claahsen-van der Grinten +20 more
semanticscholar +1 more source
Management challenges and therapeutic advances in congenital adrenal hyperplasia
Nature Reviews Endocrinology, 2022 Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following the discovery of the structure and function of adrenocortical hormones. Although major advances in molecular biology have delineated steroidogenic mechanisms and the
A. Mallappa, D. Merke
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Long-Term Outcomes of Congenital Adrenal Hyperplasia
Endocrinology and Metabolism, 2022 A plethora of negative long-term outcomes have been associated with congenital adrenal hyperplasia (CAH). The causes are multiple and involve supra-physiological gluco- and mineralocorticoid replacement, excess adrenal androgens both intrauterine and ...
A. Nordenström, S. Lajic, H. Falhammar
semanticscholar +1 more source
Novel treatments for congenital adrenal hyperplasia
Reviews in Endocrine & Metabolic Disorders, 2022 Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) need life-long medical treatment to replace the lacking glucocorticoids and potentially lacking mineralocorticoids and to lower elevated adrenal androgens. Long-
Mariska A. M. Schröder +1 more
semanticscholar +1 more source
Journal of Nepal Medical Association, 2023 Congenital Adrenal Hyperplasia is a group of autosomal recessive diseases due to deficiencies of enzymes involved in steroidogenesis. If not diagnosed and treated adequately, Congenital Adrenal Hyperplasia can lead to an acute adrenal crisis with ...
Nibedita Chapagain +4 more
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11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2023 Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen ...
Bipesh Kumar Shah +4 more
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