Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: A distinct MR imaging pattern of pituitary enlargement

American Journal of Neuroradiology

Volumn 28, Issue 7, 2007, Pages 1369-1370

  Do Amaral, L L F ^a   Ferreira, Rafael M ^a,c   Ferreira, N P F D ^a   Mendonca R A ^a   Marussi, V H R ^a   Da Cunha, J L ^b   Macaranduba B R ^b   Medeiros, J D ^b  

^a HOSPITAL BENEFICÊNCIA PORTUGUESA DE SÃO PAULO   (Brazil)

^b HOSPITAL BRIGADEIRO   (Brazil)

^c Section of Neuroradiology   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PROP 1; UNCLASSIFIED DRUG;

ADENOHYPOPHYSIS; ARTICLE; CASE REPORT; COMBINED PITUITARY HORMONE DEFICIENCY; CONSANGUINITY; FAILURE TO THRIVE; FEMALE; FOLLOW UP; GENE MUTATION; HORMONE DEFICIENCY; HUMAN; HYPOPHYSIS; IMAGE ANALYSIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; SCHOOL CHILD; SIBLING;

CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; HYPOPITUITARISM; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PITUITARY GLAND; SIBLINGS;

EID: 34548177214     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A0545     Document Type: Article

References (9)

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
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
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
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
6. Bottner 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
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
8. Pernasetti F, Toledo SP, Vasilyev W, 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
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