Results 1 to 10 of about 41,875 (218)

Syrian females with congenital adrenal hyperplasia: a case series [PDF]

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, Rami Jarjour, Sahar Idelbi, Assad Alibrahem, Sahar Al Fahoum   +4 more
doaj   +2 more sources

Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report [PDF]

Journal of Medical Case Reports, 2013
Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela, Martins João Martin, do Vale Sónia, Esteves Rui, Nunes Garção, Carmo Isabel do   +5 more
doaj   +2 more sources

A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]

Int J Mol Sci
Antysheva Z, Esibov A, Avsievich E, Petriaikina E, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Krupinova J, Ivashechkin A, Katsaran Y, Woroncow M, Skvortsova V, Bogdanov V, Volchkov P.   +14 more
europepmc   +3 more sources

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   +1 more source

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature

Radiology Case Reports, 2022
Congenital adrenal hyperplasia is an autosomal recessive disease most commonly associated with 21-hydroxylase deficiency, an enzyme integral in the biosynthesis of mineralocorticoids and glucocorticoids.
Aaron Jacobson, DO, M. Eng., Elaine Koberlein, BS, Alan Thomay, MD, Cara B Lombard, MD, Ayodele Adelanwa, MD, Dhairya A Lakhani, MD, Kelly T. Smith, MD, MS   +6 more
doaj   +1 more source

Biomarkers in congenital adrenal hyperplasia

Clinical Endocrinology, 2023
Monitoring of hormone replacement therapy represents a major challenge in the management of congenital adrenal hyperplasia (CAH). In the absence of clear guidance and standardised monitoring strategies, there is no consensus among clinicians regarding ...
Irina-Alexandra Bacila, Neil D. Lawrence, S. G. Badrinath, Chamila Balagamage, N. Krone   +4 more
semanticscholar   +1 more source

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, Nicole 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

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

Frontiers in Endocrinology, 2022
Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis.
B. Adriaansen, Mariska A. M. Schröder, P. Span, F. Sweep, A. V. van Herwaarden, H. Claahsen-van der Grinten   +5 more
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