Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
about
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiencyThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersTranslocator protein/peripheral benzodiazepine receptor is not required for steroid hormone biosynthesisCharacterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasiaIsolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiencyOxidative stress and adrenocortical insufficiency.Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.Nonclassic congenital adrenal hyperplasiaClinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).Early steps in steroidogenesis: intracellular cholesterol trafficking.Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.Clinical and molecular review of atypical congenital adrenal hyperplasiaSteroidogenic acute regulatory protein expression in the central nervous systemAn atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).A case of congenital lipoid adrenal hyperplasia.Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortVaried clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.A comprehensive review of genetics and genetic testing in azoospermia.Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.Non-Classical Congenital Adrenal Hyperplasia in Childhood.STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.17-Hydroxyprogesterone in children, adolescents and adults.Adrenocortical growth and cancer.Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.The melanocortin receptors and their accessory proteins.A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workupWhole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in ChildrenFamilial glucocorticoid deficiency: a diagnostic challenge during acute illness.NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice.Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.
P2860
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P2860
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@ast
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@en
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@nl
type
label
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@ast
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@en
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@nl
prefLabel
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@ast
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@en
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@nl
P2093
P2860
P50
P921
P356
P1476
Nonclassic lipoid congenital a ...... lial glucocorticoid deficiency
@en
P2093
Adrian J L Clark
Angela Huebner
Dan M Berney
George Halaby
Jane Green
Louise A Metherell
Martine Begeot
Michael Racine
P2860
P304
P356
10.1210/JC.2009-0467
P407
P50
P577
2009-10-01T00:00:00Z