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Article

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

1 Oct 2004

Abstract excerpt

OBJECTIVE: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterised by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Onset may occur in the neonatal period, but may first be observed in later childhood....

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Share to Adrenal Hormones and Disorders
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Identifiers

PMID: 15476446
DOI: 10.1530/eje.0.1510463

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