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Accueil > Bibliographie > Pituitary Stalk Interruption Syndrome in 83 patients : novel HESX1 mutation (...)

Pituitary Stalk Interruption Syndrome in 83 patients : (...)

Eur J Endocrinol. 2011 Apr ;164(4):457-65
Pituitary Stalk Interruption Syndrome in 83 patients : novel HESX1 mutation and severe hormonal prognosis in malformative forms.
Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T.

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 : (1) To compare subgroups with or without extra-pituitary malformations in a cohort of PSIS patients to identify predictive factors of evolution, (2) 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 extra-pituitary malformations. Multiple hormone deficits were observed significantly more often with vs. without extra-pituitary malformations (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 extra-pituitary malformations had a more severe hormonal disorder and pituitary imaging status, suggesting an antenatal origin. HESX1 or LHX4 mutations accounted for less than 5% of cases and were found in consanguineous or familial cases.

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