Results 11 to 20 of about 19,833 (220)

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   +2 more sources

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,
Speiser, P. W.
openaire   +4 more sources

NonClassic Congenital Adrenal Hyperplasia [PDF]

International Journal of Pediatric Endocrinology, 2010
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias ...
Witchel, Selma Feldman, Azziz, Ricardo
openaire   +6 more sources

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

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.
Dessinioti, Cleo, Katsambas, Andreas
openaire   +2 more sources

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

Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt [PDF]

Annals of Neonatology Journal, 2023
Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes.
Noura El-Bakry
doaj   +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

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

NEUROBLASTOMA IN A CASE OF CONGENITAL ADRENAL HYPERPLASIA

Hematology, Transfusion and Cell Therapy, 2021
Case report: The majority of neuroblastomas are sporadic and not correlated with any specific constitutional germline chromosomal abnormality, inherited predisposition, or associated congenital anomalies.
Arzu Yazal Erdem, Sonay İncesoy Özdemir, Meriç Kamak Cihan, Derya Özyörük, Neriman Sarı, İnci Ergürhan İlhan   +5 more
doaj   +1 more source