Results 11 to 20 of about 32,144 (200)

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   +5 more sources

The Use of Routine Laboratory 17‐Hydroxyprogesterone for Identification of Cases of 21‐Hydroxylase Deficiency Congenital Adrenal Hyperplasia [PDF]

Clinical Endocrinology, Volume 104, Issue 2, Page 123-129, February 2026.
ABSTRACT Background Clinical outcome studies of 21‐hydroxylase deficiency congenital adrenal hyperplasia (21OHD CAH) may be subject to selection bias due to incomplete case ascertainment. This study aimed to develop a methodology for identifying existing CAH cases and explore its utility to study clinical outcomes. Methods 17‐hydroxyprogesterone assays
Joseph McElvaney, Salma R. Ali, Amy R. Frank, Sophie Longmuir, Jane McNeilly, Malika Alimussina, Ruth McGowan, Syed Faisal Ahmed   +7 more
wiley   +2 more sources

Congenital lipoid adrenal hyperplasia [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein ...
Chan Jong Kim
doaj   +3 more sources

Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism [PDF]

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed, Rehmana Waris, Samra Batool, Rahmat Gul Omarzai, Abdur Rehman   +4 more
wiley   +2 more sources

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

Journal of Inherited Metabolic Disease, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +7 more sources

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

Congenital Adrenal Hyperplasia [PDF]

Journal of Pediatric and Adolescent Gynecology, 2017
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21.
Diala, El-Maouche, Wiebke, Arlt, Deborah P, Merke   +2 more
openaire   +5 more sources

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

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

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