NDLI: Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

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Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

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Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Blackett, Piers R. Sahakitrungruang, Taninee Tee, Meng Kian Miller, Walter L.
Description	Country affiliation: United States Author Affiliation: Sahakitrungruang T ( Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA.)
Abstract	CONTEXT: The cholesterol side-chain cleavage enzyme (P450scc), encoded by the CYP11A1 gene, converts cholesterol to pregnenolone to initiate steroidogenesis. Genetic defects in P450scc cause a rare autosomal recessive disorder that is clinically indistinguishable from congenital lipoid adrenal hyperplasia (lipoid CAH). Nonclassic lipoid CAH is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function. OBJECTIVE: We describe two siblings with hormonal findings suggesting nonclassic lipoid CAH, who had a P450scc mutation that retains partial function. PATIENTS AND METHODS: A 46,XY male presented with underdeveloped genitalia and partial adrenal insufficiency; his 46,XX sister presented with adrenal insufficiency. Hormonal studies suggested nonclassic lipoid CAH. Sequencing of the StAR gene was normal, but compound heterozygous mutations were found in the CYP11A1 gene. Mutations were recreated in the F2 plasmid expressing a fusion protein of the cholesterol side-chain cleavage system. P450scc activity was measured as Vmax/Km for pregnenolone production in transfected COS-1 cells. RESULTS: The patients were compound heterozygous for the previously described frameshift mutation 835delA and the novel missense mutation A269V. When expressed in the P450scc moiety of F2, the A269V mutant retained 11% activity of the wild-type F2 protein. CONCLUSIONS: There is a broad clinical spectrum of P450scc deficiency. Partial loss-of-function CYP11A1 mutation can present with a hormonal phenotype indistinguishable from nonclassic lipoid CAH.
ISSN	0021972X
e-ISSN	19457197
DOI	10.1210/jc.2010-1828
Journal	The Journal of Clinical Endocrinology & Metabolism
Issue Number	3
Volume Number	96
Language	English
Publisher	Oxford University Press
Publisher Date	2011-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Adrenal Hyperplasia, Congenital Genetics Cholesterol Side-chain Cleavage Enzyme Drug Therapy Metabolism Amino Acid Sequence Animals Anti-inflammatory Agents Therapeutic Use Cos Cells Cell Line Cercopithecus Aethiops Child, Preschool Cryptorchidism Dna Mutational Analysis Frameshift Mutation Genetic Vectors Gonadal Dysgenesis, 46,xx Gonadal Dysgenesis, 46,xy Hydrocortisone Kinetics Molecular Sequence Data Mutation Physiology Mutation, Missense Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Discipline Endocrinology Discipline Metabolism
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Endocrinology, Diabetes and Metabolism Clinical Biochemistry Biochemistry Endocrinology

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