Article
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
The Journal of clinical endocrinology and metabolism - 1 Mar 2005
Vallette-Kasic Sophie, Brue Thierry, Pulichino Anne-Marie, Gueydan Magali, Barlier Anne, David Michel, Nicolino Marc, Malpuech Georges, Déchelotte Pierre, Deal Cheri, Van Vliet Guy, De Vroede Monique, Riepe Felix G, Partsch Carl-Joachim, Sippell Wolfgang G, Berberoglu Merih, Atasay Begüm, de Zegher Francis, Beckers Dominique, Kyllo Jennifer, Donohoue Patricia, Fassnacht Martin, Hahner Stefanie, Allolio Bruno, Noordam C, Dunkel Leo, Hero Matti, Pigeon B, Weill Jacques, Yigit Sevket, Brauner Raja, Heinrich Juan Jorge, Cummings Elizabeth, Riddell Christie, Enjalbert Alain, Drouin Jacques
Abstract excerpt
Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). In the absence of glucocorticoid replacement, IAD can lead to neonatal death by acute adrenal insufficiency. This clinical entity was not previously...
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