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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

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
exaly   +7 more sources

Living with congenital adrenal hyperplasia: insights on quality of life [PDF]

Frontiers in Endocrinology
IntroductionUnderstanding the quality of life (QoL) and factors associated with improved outcomes in individuals with classical congenital adrenal hyperplasia (CAH) can meaningfully inform clinical care.MethodsAdults and caregivers of children with ...
Athanasia Bouliari, Louise Fleming, Ivora Hinton, Dina Matos, Jamilia McCoy, Lesley Holroyd, Karen Lin-Su   +6 more
doaj   +2 more sources

Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders [PDF]

Diagnostics
Serum and urinary steroid profiles are altered in hormone-producing adrenal adenomas, Cushing’s or Conn’s syndrome, or adrenocortical carcinoma. Definitive diagnosis of inherited congenital adrenal hyperplasia is usually accomplished by measuring the ...
Indra Ramasamy
doaj   +2 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   +3 more sources

CONGENITAL ADRENAL HYPERPLASIA

Urology Research and Practice, 2019
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Kenan Karabay, Engin Öztan
doaj   +5 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

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

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