Title: Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations
Authors: 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 #
Issue Date: Mar-2005
Series Title: Journal of Clinical Endocrinology and Metabolism vol:90 issue:3 pages:1323-31
Abstract: 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 well characterized because of the small number of published cases. Since identification of the first TPIT mutations, we have enlarged our series of neonatal IAD patients to 27 patients from 21 unrelated families. We found TPIT mutations in 17 of 27 patients. We identified 10 different TPIT mutations, with one mutation found in five unrelated families. All patients appeared to be homozygous or compound heterozygous for TPIT mutations, and their unaffected parents are heterozygous carriers, confirming a recessive mode of transmission. We compared the clinical and biological phenotype of the 17 IAD patients carrying a TPIT mutation with the 10 IAD patients with normal TPIT-coding sequences. This series of neonatal IAD patients revealed a highly homogeneous clinical presentation, suggesting that this disease may be an underestimated cause of neonatal death. Identification of TPIT gene mutations as the principal molecular cause of neonatal IAD permits prenatal diagnosis for families at risk for the purpose of early glucocorticoid replacement therapy.
ISSN: 0021-972X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Newborn (-)
× corresponding author
# (joint) last author

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