Open AccessNonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia
Author(s) -
Bo Y. Baker,
Lin Lin,
Chan Jong Kim,
Jamal Raza,
Claire Smith,
Walter L. Miller,
John C. Achermann
Publication year - 2006
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2006-1565
Subject(s) - steroidogenic acute regulatory protein , endocrinology , medicine , congenital adrenal hyperplasia , mineralocorticoid , context (archaeology) , androgen excess , steroidogenic factor 1 , aldosterone , cholesterol side chain cleavage enzyme , adrenal insufficiency , androgen , biology , disorders of sex development , hormone , obesity , genetics , insulin resistance , gene , paleontology , polycystic ovary , cytochrome p450 , nuclear receptor , metabolism , messenger rna , transcription factor
Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis, and 46,XY genetic males have complete lack of androgenization and appear phenotypically female due to impaired testicular androgen secretion in utero.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom