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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, Ješić Maja, Zdravković Vera   +2 more
doaj   +3 more sources

Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report. [PDF]

J Med Case Rep
Background Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens.
Vidmar AP, Kaiser L, Martin MJ, Abel S, Kim AG, Weitzner M, Muñoz CE, Fisher LK, Kim MS, Samakar K.   +9 more
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
doaj   +4 more sources

Congenital Adrenal Hyperplasia

Pediatrics in Review
AbstractWe 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 depending on disease severity.
Sharma L, Momodu II, Singh G.
europepmc   +3 more sources

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, P. Speiser, S. Ahmed, W. Arlt, R. Auchus, H. Falhammar, C. Flück, L. Guasti, A. Huebner, B. Kortmann, N. Krone, D. Merke, W. Miller, A. Nordenström, N. Reisch, D. Sandberg, N. Stikkelbroeck, P. Touraine, Agustini Utari, S. Wudy, P. White   +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
semanticscholar   +1 more source

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

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report

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, Aayam Adhikari, Nishob Adhikari, Santosh Paudel, Deependra Mandal   +4 more
doaj   +1 more source

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, Richa Koirala, Sumit Dhamala, Mukesh Bhatta, Shekhar Khatiwada   +4 more
doaj   +1 more source

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

Journal of Clinical Endocrinology and Metabolism, 2021
Context Standard glucocorticoid therapy in congenital adrenal hyperplasia (CAH) regularly fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes.
Merke Dp, M. A, A. W, B. a, Linden Hirschberg A, Juul A, N. J., Perry Cg, Prete A, Rees Da, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, T. Fp, P. J, Rosser Rj   +16 more
semanticscholar   +1 more source