Results 1 to 10 of about 1,082 (133)
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 +6 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
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 ...
Gerard Ruiz-Babot +18 more
doaj +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
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 +4 more
doaj +1 more source