Results 11 to 20 of about 445,228 (273)

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

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, L. A., Juul A, Newell-Price 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

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

The Lancet Diabetes and Endocrinology, 2021
BACKGROUND GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We
Fanny Chasseloup, I. Bourdeau, A. Tabarin, D. Regazzo, C. Dumontet, Nataly Ladurelle, L. Tosca, L. Amazit, A. Proust, R. Scharfmann, Tiphaine Mignot, F. Fiore, S. Tsagarakis, D. Vassiliadi, D. Maiter, Jacques Young, A. Lecoq, Vianney Deméocq, S. Salenave, H. Lefebvre, L. Cloix, P. Emy, Rachel Dessailloud, D. Vezzosi, C. Scaroni, M. Barbot, W. D. de Herder, F. Pattou, M. Tetreault, G. Corbeil, M. Dupeux, B. Lambert, G. Tachdjian, A. Guiochon‐Mantel, I. Beau, P. Chanson, S. Viengchareun, A. Lacroix, J. Bouligand, P. Kamenickỷ   +39 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

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
openaire   +2 more sources

Adrenocorticotropic hormone (ACTH) independent Cushing´s syndrome due to unilateral adrenocortical hyperplasia: two case reports

The Pan African Medical Journal, 2021
Adrenal unilateral macronodular hyperplasia is a rare cause of Cushing´s syndrome. We discuss the case of two patients who present Cushing syndrome due to unilateral adrenal hyperplasia.
Yousra Aouinati, Amal Mjabber, Nassim Essabah Haraj, Siham El Aziz, Asmaa Chadli   +4 more
doaj   +1 more source

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia

European Journal of Endocrinology, 2021
Background Patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) have poor health outcomes with increased mortality, short stature, impaired fertility, and increased cardiovascular risk factors such as obesity.
A. Prete, R. Auchus, R. Ross
semanticscholar   +1 more source

Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant

Folia Medica Indonesiana, 2022
Highlight: • The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with Adrenal crisis (AC) case report. • Adrenal crisis (AC) is a life-threatening emergency that contributes to the high death rate of children with adrenal ...
Nur Rochmah, Muhammad Faizi, Neurinda Permata Kusumastuti, Leonardo Ferryanto Mak Samadhi, Wika Yuli Deakandi   +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

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, Andrea Gropman, Andrea Gropman, Robert W. Benjamin, Francie Mitchell, Michaela R. Brooks, Mary P. Hamzik, Kira Sampson, Ritika Kommareddi, Teresa Sadeghin, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse   +12 more
doaj   +1 more source