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Identification d'une nouvelle mutation hétérozygote composite du gène TPIT responsable d'un déficit congénital isolé en hormone adrénocorticotrope, une cause sous-estimée de décès néonatal

par Mairy, L.;Gillerot, Yves;Roland, Dominik ;Maes, Marc
Référence Louvain médical, 128, 2, page (61-64)
Publication Publié, 2009-02

Article révisé par les pairs

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Résumé :

Congenital isolated adrenocorticotrophin deficiency (IAD) is a rare but probably underestimated cause of neonatal death due to adrenal glucocorticoid insufficiency. The prevalence of this clinical entity is still unknown because of the small number of published cases in the literature. The largest series reported by Vallette-Kasic and al. (1) en 2005 includes only 27 patients. Actually, only mutations in the TPIT gene - a specific and essential transcription factor of the ACTH precursor - have been identified and recognized as responsible for congenital IAD. However, the absence of TPIT mutations for many patients with this condition implies that other genes or pathways must be involved and require additional investigations. To date, 12 mutations are reported. We describe two new mutations of the TPIT gene in a compound heterozygous patient suffering from congenital IAD.