{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:20Z","timestamp":1791353540514,"version":"4.3.1"},"reference-count":45,"publisher":"FapUNIFESP (SciELO)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:p>Combined Pituitary Hormone Deficiency (CPHD) is a prevalent disease in Neuroendocrinology services. The genetic form of CPHD may originate from mutations in pituitary transcription factor (PTF) genes and the pituitary image in these cases may give a clue of what PTF is most probably mutated: defects in LHX4 are usually associated with ectopic posterior pituitary (EPP); defects in LHX3, PIT1, and PROP1, with normally placed posterior pituitary (NPPP); HESX1 mutations are associated with both. OBJECTIVE: To identify mutations in PTF genes in patients with idiopathic hypopituitarism followed in our service, based on the presence or absence of EPP on sellar MRI. METHODS: Forty patients with idiopathic hypopituitarism (36 families, 9 consanguineous), followed in the Neuroendocrinology Outpatient Clinic of UNIFESP, Brazil, were submitted to sequencing analyses of PTF genes as follows: LHX3, HESX1, PIT1, and PROP1 were sequenced in patients with NPPP (26\/40) and HESX1 and LHX4 in patients with EPP (14\/40). RESULTS: We identified only PROP1 mutations in 9 out of 26 patients with CPHD and NPPP (35%). Since eight of them came from 4 consanguineous families, the prevalence of PROP1 mutations was higher when only consanguineous families were considered (44%, 4\/9). At the end of the study, we decided to sequence PROP1 in patients with EPP, just to confirm that they were not candidates for PROP1 mutations. No patients with EPP had PROP1 or other PTF mutations. CONCLUSIONS: Patients with idiopathic CPHD and NPPP, born from consanguineous parents, are the strong candidates for PROP1 mutations. Other developmental gene(s) may be involved in the genesis of idiopathic hypopituitarism associated with EPP.<\/jats:p>","DOI":"10.1590\/s0004-27302007000700012","type":"journal-article","created":{"date-parts":[[2007,12,19]],"date-time":"2007-12-19T01:38:38Z","timestamp":1198028318000},"page":"1097-1103","source":"Crossref","is-referenced-by-count":33,"title":["Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency"],"prefix":"10.1590","volume":"51","author":[{"given":"Teresa C.","family":"Vieira","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valter T.","family":"Boldarine","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Abucham","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"5","key":"ref1","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1034\/j.1399-0004.2000.570503.x","article-title":"The molecular basis for developmental disorders of the pituitary gland in man","volume":"57","author":"Dattani MT","year":"2000","journal-title":"Clin Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"issue":"2","key":"ref2","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1365-2265.2004.02189.x","article-title":"Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia","volume":"62","author":"Rainbow 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function of age evaluated by magnetic resonance imaging in children.","volume":"21","author":"Argyropoulou M","year":"1991","journal-title":"Pediatr Radiol","ISSN":"https:\/\/id.crossref.org\/issn\/0301-0449","issn-type":"print"},{"issue":"3","key":"ref30","first-page":"551","article-title":"MR height of the pituitary gland as a function of age and sex: especially physiological hypertrophy in adolescence and in climacterium","volume":"18","author":"Tsunoda A","year":"1997","journal-title":"AJNR Am J Neuroradiol","ISSN":"https:\/\/id.crossref.org\/issn\/0195-6108","issn-type":"print"},{"issue":"2","key":"ref31","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/0006-291X(92)92281-2","article-title":"Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency","volume":"189","author":"Ohta K","year":"1992","journal-title":"Biochem Biophys Res 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