Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with TPIT Gene Mutations

Author:

Couture C.1,Saveanu A.23,Barlier A.23,Carel J. C.4,Fassnacht M.5,Flück C. E.6,Houang M.7,Maes M.8,Phan-Hug F.9,Enjalbert A.23,Drouin J.1,Brue T.2,Vallette S.110

Affiliation:

1. Institut de Recherches Cliniques de Montréal (C.C., J.D., S.V.), Montréal, Québec, Canada H2W 1R7

2. Laboratoire Centre National de la Recherche Scientifique Unité Mixte de Recherche 6231 (A.S., A.B., A.E., T.B.), Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille, 13344 Marseille, France

3. Laboratoire de Biologie Moléculaire (A.S., A.B., A.E.), Centre Hospitalier Universitaire Conception, 13385 Marseille, France

4. Department of Paediatric Endocrinology and Diabetology (J.C.C.), Institut National de la Santé et de la Recherche Médicale CIC-EC5 and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Assistance Publique-Hôpitaux de Paris Robert Debré Hospital, and University Paris 7 Denis Diderot, 75019 Paris, France

5. Department of Medicine (M.F.), University of Würzburg, 97070 Würzburg, Germany

6. Department of Pediatric Endocrinology (C.E.F.), University Childern's Hospital, CH-3010 Bern, Switzerland

7. Service d'Endocrinologie (M.H.), Hôpital Armand-Trousseau, 75012 Paris, France

8. Unité d'Endocrinologie Pédiatrique (M.M), Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium

9. Hôpital Universitaire de Lausanne (Centre Hospitalier Universitaire Vaudois) (E.P.-H.), 1000 Lausanne, Switzerland

10. Département de Médecine (S.V.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Université de Montréal, Montréal, Québec, Canada H2W 1T8

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.;Mehta;Best Pract Res Clin Endocrinol Metab,2008

2. Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes.;Davis;Mol Cell Endocrinol,2010

3. Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.;Nystrom;Pituitary,2010

4. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients;Reynaud;J Clin Endocrinol Metab,2006

5. Mutations in the human proopiomelanocortin gene.;Krude;Ann NY Acad Sci,2003

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