Results 11 to 20 of about 54,890 (322)

Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment [PDF]

Quality in Sport
Introduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński, Marta Targońska, Adrianna Madej, Adrian Suława, Julia Furgalska, Sebastian Fedorowicz, Aneta Basiak, Aleksander Ptasiński, Rafał Niekurzak, Agnieszka Buczek   +9 more
doaj   +3 more sources

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.
Andreas Katsambas, Cleo Dessinioti
openaire   +6 more sources

Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions [PDF]

Quality in Sport
Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations in ...
Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Karina Lissak, Małgorzata Komarów, Martyna Choinka, Dominika Karasińska, Jakub Kalisiak   +7 more
doaj   +3 more sources

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

Biology of Sex Differences, 2011
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Chalmers Laura J, Doherty Paul, Migeon Claude J, Copeland Kenneth C, Bright Brianna C, Wisniewski Amy B   +5 more
doaj   +4 more sources

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

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

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,
G. Oelsner, E. Akstein, Z. Kraiem, D. M. Serr, B. Lunenfeld, B. Goldman   +5 more
openaire   +5 more sources

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

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Clinical Endocrinology, Volume 98, Issue 1, Page 41-48, January 2023., 2023
Abstract Objective Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow‐up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients.
Selma Waaijers, Agustini Utari, Rick H. A. van der Doelen, Sultana M. H. Faradz, Renate Hensen‐Lodewijk, Andre J. Olthaar, Paul J. Geutjes, Fred C. Sweep, Hedi L. Claahsen‐van der Grinten, Antonius E. van Herwaarden   +9 more
wiley   +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