Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations

Couture, C; Saveanu, A; Barlier, A; Carel, J C; Fassnacht, M; Flück, C E; Houang, M; Maes, M; Phan-Hug, F; Enjalbert, A; Drouin, J; Brue, T; Vallette, S (2012). Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. Journal of clinical endocrinology and metabolism, 97(3), E486-95. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2011-1659

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Congenital isolated ACTH deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones. This condition was poorly defined before we identified TPIT, a T-box transcription factor with a specific role in differentiation of the corticotroph lineage in mice and humans, as its principal molecular cause.

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