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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 +2 more
doaj +3 more sources
Congenital adrenal hyperplasia [PDF]
Lancet, The, 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 ...
Diala El-Maouche +2 more
exaly +8 more sources
Living with congenital adrenal hyperplasia: insights on quality of life [PDF]
Frontiers in EndocrinologyIntroductionUnderstanding 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 +6 more
doaj +2 more sources
CONGENITAL ADRENAL HYPERPLASIA
Urology Research and Practice, 2019 -
Kenan Karabay, Engin Öztan
doaj +5 more sources
Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]
Endocrinology and Metabolism Clinics of North America, 2015 Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Adina F Turcu, Richard J Auchus
exaly +3 more sources
Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders [PDF]
DiagnosticsSerum 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
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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
Cell Reports, 2018 Summary: Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback ...
Gérard Ruiz-Babot +2 more
exaly +3 more sources
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. +6 more
doaj +1 more source
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 +4 more
doaj +1 more source