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Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement

L.L.F. do Amaral, R.M. Ferreira, N.P.F.D. Ferreira, R.A. Mendonça, V.H.R. Marussi, J.L. da Cunha, B.R. Maçaranduba and J.D. Medeiros
American Journal of Neuroradiology August 2007, 28 (7) 1369-1370; DOI: https://doi.org/10.3174/ajnr.A0545
L.L.F. do Amaral
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R.M. Ferreira
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N.P.F.D. Ferreira
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R.A. Mendonça
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V.H.R. Marussi
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J.L. da Cunha
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B.R. Maçaranduba
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J.D. Medeiros
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References

  1. ↵
    Riepe FG, Partsch CJ, Blankenstein O, et al. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 2001;86:4353–57
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  2. ↵
    Marui S, Souza SLC, Carvalho SLC, et al. The genetic bases of growth abnormalities. Arq Bras Endocrinol Metab 2002;46:444–56
  3. ↵
    Voutetakis A, Argyropoulou M, Sertedaki A, et al. Pituitary magnetic resonance imaging in 15 patients with PROP1 gene mutations: pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab 2004;89:2200–06
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  4. ↵
    Rosenbloom AL, Almonte AS, Brown MR, et al. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. J Clin Endocrinol Metab 1999;84:50–57
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  5. ↵
    Cogan JD, Wu W, Philips JA III, et al. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab 1998;83:3346–49
    CrossRefPubMedWeb of Science
  6. ↵
    Böttner A, Keller E, Kratzsch J, et al. PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab 2004;89:5256–65
    CrossRefPubMedWeb of Science
  7. ↵
    Fofanova O, Takamura N, Kinoshita E, et al. MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations. AJR Am J Roentgenol 2000;174:555–59
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    Pernasetti F, Toledo SP, Vasilyev VV, et al. Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301–302delAG) in the profit of Pit-1 gene. J Clin Endocrinol Metab 2000;85:390–97
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  9. ↵
    Mendonça BB, Osório MG, Latronico AC, et al. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene. J Clin Endocrinol Metab 1999;84:942–45
    CrossRefPubMedWeb of Science
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American Journal of Neuroradiology: 28 (7)
American Journal of Neuroradiology
Vol. 28, Issue 7
August 2007
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L.L.F. do Amaral, R.M. Ferreira, N.P.F.D. Ferreira, R.A. Mendonça, V.H.R. Marussi, J.L. da Cunha, B.R. Maçaranduba, J.D. Medeiros
Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement
American Journal of Neuroradiology Aug 2007, 28 (7) 1369-1370; DOI: 10.3174/ajnr.A0545

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Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement
L.L.F. do Amaral, R.M. Ferreira, N.P.F.D. Ferreira, R.A. Mendonça, V.H.R. Marussi, J.L. da Cunha, B.R. Maçaranduba, J.D. Medeiros
American Journal of Neuroradiology Aug 2007, 28 (7) 1369-1370; DOI: 10.3174/ajnr.A0545
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