MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROPI mutations

被引：46

作者：

Fofanova, O

Takamura, N

Kinoshita, E

Vorontsov, A

Vladimirova, V

Dedov, I

Peterkova, V

Yamashita, S

机构：

[1] Nagasaki Univ, Sch Med, Dept Int Hlth & Radiat Res, Nagasaki 8528523, Japan

[2] Endocrinol Res Ctr, Dept Pediat, Moscow 117036, Russia

[3] Endocrinol Res Ctr, MRI Dept, Moscow 117036, Russia

[4] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 8528523, Japan

来源：

AMERICAN JOURNAL OF ROENTGENOLOGY | 2000年 / 174卷 / 02期

关键词：

D O I：

10.2214/ajr.174.2.1740555

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

OBJECTIVE. The aim of this study was to clarify the relationship between morphologic changes of the pituitary gland and the genotype of Prophet of Pit-1 (PROP1), a newly discovered gene responsible for congenital combined pituitary hormone deficiency, in a series of eight humans with this disorder. CONCLUSION. Congenital hypoplasia of the anterior pituitary gland is the most common MR imaging finding in patients with combined pituitary hormone deficiency. Our findings suggest a crucial role for PROP1 in pituitary organogenesis as well as anterior pituitary cell differentiation.

引用

收藏

页码：555 / 559

页数：5

相关论文

共 12 条

[1] EMPTY SELLA IN CHILDREN AND ADOLESCENTS WITH POSSIBLE HYPOTHALAMIC-PITUITARY DISORDERS [J].

CACCIARI, E ;

ZUCCHINI, S ;

AMBROSETTO, P ;

TANI, G ;

CARLA, G ;

CICOGNANI, A ;

PIRAZZOLI, P ;

SGANGA, T ;

BALSAMO, A ;

CASSIO, A ;

ZAPPULLA, F .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1994, 78 (03) :767-771

[2] The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency [J].

Cogan, JD ;

Wu, W ;

Phillips, JA ;

Arnhold, IJP ;

Agapito, A ;

Fofanova, OV ;

Osorio, MGF ;

Bircan, I ;

Moreno, A ;

Mendonca, BB .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (09) :3346-3349

[3]

DICHIRO G, 1962, AMER J ROENTGENOL RA, V87, P989

[4] Human Prop-1:: cloning, mapping, genomic structure -: Mutations in familial combined pituitary hormone deficiency [J].

Duquesnoy, P ;

Roy, A ;

Dastot, F ;

Ghali, I ;

Teinturier, C ;

Netchine, Z ;

Cacheux, V ;

Hafez, M ;

Salah, N ;

Chaussain, JL ;

Goossens, M ;

Bougnères, P ;

Amselem, S .

FEBS LETTERS, 1998, 437 (03) :216-220

[5] Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C) [J].

Fluck, C ;

Deladoey, J ;

Rutishauser, K ;

Eble, A ;

Marti, U ;

Wu, W ;

Mullis, PE .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (10) :3727-3734

[6]

Fofanova O, 1998, J CLIN ENDOCR METAB, V83, P2601

[7] A Mutational Hot Spot in the Prop-1 Gene in Russian Children with Combined Pituitary Hormone Deficiency [J].

Fofanova O.V. ;

Takamura N. ;

Kinoshita E.-I. ;

Parks J.S. ;

Brown M.R. ;

Peterkova V.A. ;

Evgrafov O.V. ;

Goncharov N.P. ;

Bulatov A.A. ;

Dedov I.I. ;

Yamashita S. .

Pituitary, 1998, 1 (1) :45-49

[8]

Greulich W.W., 1971, RADIOGRAPHIC ATLAS S

[9] 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].

Mendonca, BB ;

Osorio, MGF ;

Latronico, AC ;

Estefan, V ;

Lo, LSS ;

Arnhold, IJP .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (03) :942-945

[10]

Parks JS, 1997, ACTA PAEDIATR, V86, P28