Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

Glucocorticoid Deficiency Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial

Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.

BACKGROUND/AIMS Primary adrenal insufficiency (AI) is an important cause of morbidity in children. Our objectives were: (1) to describe the clinical presentation of children with new-onset primary AI, and (2) to identify monogenic causes of primary AI in children. METHODS Chart review and mutation detection in candidate genes were conducted for 11 patients with primary AI. RESULTS The likel...

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

CONTEXT 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 ...

Thyrotoxic periodic paralysis with Graves' disease leading to the discovery of a hidden nonclassic 11β hydroxylase deficiency.

11β hydroxylase deficiency (OHD) is one of the main causes of congenital adrenal hyperplasia. There have been only a few reported cases of nonclassic 11β OHD, a milder form of the disease. It is difficult to detect occult nonclassic 11β OHD because patients present with no or mild symptoms. We herein present a case of thyrotoxic periodic paralysis (TPP) with Graves' disease leading to the disco...

Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency

Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...