Adrenocorticotropic hormone deficiency

Definition:

Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD.

References:

[1]. C Couture, et al. Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. J Clin Endocrinol Metab. 2012 Mar;97(3):E486-95. [Content Brief]

[2]. Luu-Ly Pham, et al. Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency. PLoS One. 2011;6(10):e26516. [Content Brief]

[3]. Naomi Weintrob, et al. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. Pediatrics. 2006 Feb;117(2):e322-7. [Content Brief]

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