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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Pituitary stalk interruption syndrome in 83 patients: Novel HESX1 mutation and severe hormonal prognosis in malformative forms
European Journal of Endocrinology, Volume 164, No. 4, Year 2011
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Description
Background: Pituitary stalk interruption syndrome (PSIS) is a particular entity in the population of patients with hypopituitarism. Only rare cases have a known genetic cause. Objectives: i) To compare subgroups with or without extra-pituitary malformations (EPM) in a cohort of PSIS patients to identify predictive factors of evolution, ii) to determine the incidence of mutations of the known pituitary transcription factor genes in PSIS. Study design: We analyzed features of 83 PSIS patients from 80 pedigrees and screened HESX1, LHX4, OTX2, and SOX3 genes. Results: PSIS had a male predominance and was rarely familial (5%). Pituitary hypoplasia was observed only in the group with EPM. Multiple hormone deficits were observed significantly more often with versus without EPM (87.5 vs 69.5% respectively). Posterior pituitary location along the stalk was a significant protective factor regarding severity of hormonal phenotype. A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial PSIS. Conclusion: PSIS patients with EPM had a more severe hormonal disorder and pituitary imaging status, suggesting an antenatal origin. HESX1 or LHX4 mutations accounted for <5% of cases and were found in consanguineous or familial cases. © 2011 European Society of Endocrinology.
Authors & Co-Authors
Reynaud, Rachel
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Albarel, F.
France, Marseille
Hopital la Timone
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Saveanu, Alexandru
France, Marseille
Hopital la Timone
France, Marseille
Hopital de la Conception
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Kaffel, Noureddine
Tunisia, Sfax
Chu Hedi-chaker
Castinetti, F.
France, Marseille
Hopital la Timone
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Lecomte, P.
France, Tours
Hopital Bretonneau
Brauner, Raja
France, Paris
Université Paris Cité
Simonin, G.
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
Gaudart, J.
France, Marseille
Hopital la Timone
France, Marseille
Sciences Economiques et Sociales de la Santé et Traitement de L'information Médicale
Carmona, E.
France, Marseille
Hopital de la Conception
Enjalbert, Alain
France, Marseille
Hopital de la Conception
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Barlier, Anne
France, Marseille
Hopital la Timone
France, Marseille
Hopital de la Conception
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Brue, Thierry C.
France, Marseille
Hopital la Timone
France, Marseille
Centre de Recherche en Neurobiologie-neurophysiologie de Marseille
Statistics
Citations: 79
Authors: 13
Affiliations: 8
Identifiers
Doi:
10.1530/EJE-10-0892
ISSN:
08044643
e-ISSN:
1479683X
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Violence And Injury
Study Design
Cross Sectional Study
Cohort Study
Participants Gender
Male