Hormonal, pituitary magnetic resonance, <i>LHX4</i> and <i>HESX1</i> evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

Melo, Maria Edna de; Marui, Suemi; Carvalho, Luciani R.; Arnhold, Ivo Jorge Prado; Leite, Cláudia C.; Mendonça, Berenice Bilharinho; Knoepfelmacher, Mirta

doi:10.1111/j.1365-2265.2006.02692.x

Cited by 44 publications

(44 citation statements)

References 34 publications

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“…Indeed, regardless of the presence or absence of EPM, a correlation has previously been reported between anterior pituitary function and anatomical characteristics of the hypothalamic-pituitary region, particularly a better functional prognostic value of the visibility of the pituitary stalk (5,26,27). In our population, posterior pituitary along the stalk represented a protective factor regarding severity of hormonal status.…”

Section: Discussionsupporting

confidence: 53%

“…Fourth, the EPMC group included a significantly greater proportion of patients with no visible anterior pituitary. No association was found between the location of posterior pituitary and presence of EPM, as described in other cohorts of PSIS patients (5,6).…”

Section: Discussionsupporting

confidence: 43%

“…Eighteen patients were diagnosed before or at 2 years of age, and five patients were diagnosed at adult age (O18 years). The mean bone age at diagnosis was 5 Table 1.…”

Section: General Features Of Psis Patientsmentioning

confidence: 99%

“…Former theories implicated traumatic birth, considering the high rate of perinatal events in this population (4). More recent studies favor organogenesis defects that may be of genetic origin or due to environmental factors during pregnancy (2,5,6). Over the last decade, mutations of transcriptional factor genes involved in pituitary development have been reported in human congenital hypopituitarism (7).…”

Section: Introductionmentioning

confidence: 99%

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

Reynaud

Albarel

Saveanu

et al. 2011

European Journal of Endocrinology

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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.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionsupporting

confidence: 43%

“…Eighteen patients were diagnosed before or at 2 years of age, and five patients were diagnosed at adult age (O18 years). The mean bone age at diagnosis was 5 Table 1.…”

Section: General Features Of Psis Patientsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Reynaud

Albarel

Saveanu

et al. 2011

European Journal of Endocrinology

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“…Identification of genes involved in these processes not only would be a significant step forward for understanding the fundamentals of pituitary organogenesis but could also uncover candidate genes for cases of pituitary hypoplasia or dysfunction that currently remain elusive. Pituitary stalk disruption is an important cause of hypopituitarism, and while some congenital cases could be attributable to birth trauma or traumatic brain injury, others are likely to be genetic, and the molecular mechanisms remain to be defined (9,61).…”

mentioning

confidence: 99%

Candidate genes for panhypopituitarism identified by gene expression profiling

Mortensen¹,

MacDonald

Ghosh

et al. 2011

Physiological Genomics

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Mutations in the transcription factors PROP1 and PIT1 (POU1F1) lead to pituitary hormone deficiency and hypopituitarism in mice and humans. The dysmorphology of developing Prop1 mutant pituitaries readily distinguishes them from those of Pit1 mutants and normal mice. This and other features suggest that Prop1 controls the expression of genes besides Pit1 that are important for pituitary cell migration, survival, and differentiation. To identify genes involved in these processes we used microarray analysis of gene expression to compare pituitary RNA from newborn Prop1 and Pit1 mutants and wild-type littermates. Significant differences in gene expression were noted between each mutant and their normal littermates, as well as between Prop1 and Pit1 mutants. Otx2, a gene critical for normal eye and pituitary development in humans and mice, exhibited elevated expression specifically in Prop1 mutant pituitaries. We report the spatial and temporal regulation of Otx2 in normal mice and Prop1 mutants, and the results suggest Otx2 could influence pituitary development by affecting signaling from the ventral diencephalon and regulation of gene expression in Rathke's pouch. The discovery that Otx2 expression is affected by Prop1 deficiency provides support for our hypothesis that identifying molecular differences in mutants will contribute to understanding the molecular mechanisms that control pituitary organogenesis and lead to human pituitary disease.

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Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi

et al. 2018

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Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

Cited by 44 publications

References 34 publications

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

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

Candidate genes for panhypopituitarism identified by gene expression profiling

Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi

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