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PROP1 Gene Analysis in Portuguese Patients with Combined Pituitary Hormone Deficiency

2006-10Journal article Open access
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dc.contributor.authorLemos, MC
dc.contributor.authorGomes, L
dc.contributor.authorBastos, M
dc.contributor.authorLeite, V
dc.contributor.authorLimbert, E
dc.contributor.authorCarvalho, D
dc.contributor.authorBacelar, C
dc.contributor.authorMonteiro, M
dc.contributor.authorFonseca, F
dc.contributor.authorAgapito, A
dc.contributor.authorCastro, JJ
dc.contributor.authorRegateiro, F
dc.contributor.authorCarvalheiro, M
dc.date.accessioned2016-05-05T14:42:40Z
dc.date.available2016-05-05T14:42:40Z
dc.date.issued2006-10
dc.description.abstractOBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and 29 sporadic cases) selected on the basis of clinical and hormonal evidence of GH deficiency, central hypothyroidism and hypogonadotrophic hypogonadism, in the absence of an identified cause of hypopituitarism. Mutations of PROP1 were investigated by DNA sequencing. Clinical, hormonal and neuroradiological data were collected at each centre. RESULTS: PROP1 mutations were identified in all familial cases: five kindreds presented a c. 301-302delAG mutation, one kindred presented a c. 358C --> T (R120C) mutation and one presented a previously unreported initiation codon mutation, c. 2T --> C. Of the 29 sporadic cases, only two (6.9%) presented PROP1 germline mutations (c. 301-302delAG, in both). Phenotypic variability was observed among patients with the same mutations, particularly the presence and age of onset of hypocortisolism, the levels of PRL and the results of pituitary imaging. One patient presented a sellar mass that persisted into adulthood. CONCLUSIONS: This is the first report of a mutation in the initiation codon of the PROP1 gene and this further expands the spectrum of known mutations responsible for CPHD. The low mutation frequency observed in sporadic cases may be due to the involvement of other unidentified acquired or genetic causes.pt_PT
dc.identifier.citationClin Endocrinol (Oxf). 2006 Oct;65(4):479-85pt_PT
dc.identifier.doi10.1111/j.1365-2265.2006.02617.xpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2469
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectHCC ENDpt_PT
dc.subjectAdrenocorticotropic Hormone/deficiencypt_PT
dc.subjectAge of Onsetpt_PT
dc.subjectCodonpt_PT
dc.subjectCohort Studiespt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectGenotypept_PT
dc.subjectHomeodomain Proteins/geneticspt_PT
dc.subjectHydrocortisone/deficiencypt_PT
dc.subjectHypopituitarism/geneticspt_PT
dc.subjectHypopituitarism/pathologypt_PT
dc.subjectMagnetic Resonance Imagingpt_PT
dc.subjectMutationpt_PT
dc.subjectPedigreept_PT
dc.subjectPhenotypept_PT
dc.subjectPituitary Gland/pathologypt_PT
dc.subjectPituitary Hormones/deficiencypt_PT
dc.subjectPortugalpt_PT
dc.subjectProlactin/deficiencypt_PT
dc.titlePROP1 Gene Analysis in Portuguese Patients with Combined Pituitary Hormone Deficiencypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage485pt_PT
oaire.citation.startPage479pt_PT
oaire.citation.titleClinical Endocrinologypt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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