Results 11 to 20 of about 32,928 (226)

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

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

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

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

Congenital adrenal hyperplasia [PDF]

The Lancet, 2017
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that ...
Wiebke Arlt, Diala El-Maouche, Deborah P. Merke   +2 more
openaire   +7 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   +3 more sources

Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Journal of Nepal Medical Association, 2020
Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal, Deepa Khanal, Rajan Phuyal, Uttara Adhikari   +3 more
doaj   +1 more source

PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Endocrine Practice, 2020
Context: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Objective: To estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population. Data
I. Nermoen, H. Falhammar
semanticscholar   +1 more source

SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION [PDF]

Romanian Journal of Pediatrics, 2017
Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease.
Roxana Tanase, Alina Stoicescu, Elena Georgescu, Carmen Pascu, Serban Rogoz, Oana Falup-Pecurariu   +5 more
doaj   +1 more source