Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms

Pituitary stalk interruption syndrome (PSIS) is a particular entity in the population of patients with hypopituitarism. Only rare cases have a known genetic cause. i) To compare subgroups with or without extra-pituitary malformations (EPM) in a cohort of PSIS patients to identify predictive factors...

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Vydáno v:European journal of endocrinology Ročník 164; číslo 4; s. 457
Hlavní autoři: 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
Médium: Journal Article
Jazyk:angličtina
Vydáno: England 01.04.2011
Témata:
Adolescent
Child
Child, Preschool
Female
Homeodomain Proteins - genetics
Humans
Infant
LIM-Homeodomain Proteins
Magnetic Resonance Imaging
Male
Mutation
Otx Transcription Factors - genetics
Pituitary Gland - abnormalities
Pituitary Gland - pathology
SOXB1 Transcription Factors - genetics
Transcription Factors - genetics
ISSN:1479-683X, 1479-683X
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Shrnutí:Pituitary stalk interruption syndrome (PSIS) is a particular entity in the population of patients with hypopituitarism. Only rare cases have a known genetic cause. 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. 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. 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.
Bibliografie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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content type line 23
ISSN:1479-683X
1479-683X
DOI:10.1530/EJE-10-0892