Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!
CLOSE
Medical Disclaimer
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
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.