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The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
Overview
P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by {4:Kim et al., 2008}).
Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; {201710}), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by {6:Sahakitrungruang et al., 2011}). Source: Online Mendelian Inheritance in Man
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
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Disease Resources
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The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
AAMDSIF Online Academy (webinars)
200+ FREE webinars for patients, families and caregivers about rare blood cancers and bone marrow failure diseases.
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Disease Information
Descriptions of various rare blood cancers and bone marrow failure diseases.