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MR Imaging of the Pituitary Gland in Children and Young Adults with Congenital Combined Pituitary Hormone Deficiency Associated with PROP1 Mutations

Olga Fofanova1, Noboru Takamura2, Ei-ichi Kinoshita3, Alexander Vorontsov4, Veronika Vladimirova4, Ivan Dedov1,4, Valentina Peterkova1 and Shunichi Yamashita2

1 Department of Pediatrics, Endocrinology Research Center, Moscow 117036, Russia.
2 Department of International Health and Radiation Research, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
3 Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki 852-8104, Japan.
4 MRI Department, Endocrinology Research Center, Moscow 117036, Russia.



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  		Fig. 1A. —Midsagittal MR images of siblings with congenital combined pituitary hormone deficiency with homozygous PROP1 mutation. Image of 15-year-old boy shows anterior pituitary hypoplasia.

 


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  		Fig. 1B. —Midsagittal MR images of siblings with congenital combined pituitary hormone deficiency with homozygous PROP1 mutation. Image of 21-year-old sister shows empty sella. Pituitary glands have normal stalk and orthotopic posterior pituitary.

 


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  		Fig. 2. —19-year-old woman with congenital combined pituitary hormone deficiency and homozygous PROP1 mutation. Midsagittal MR image shows empty sella, normal stalk, and orthotopic posterior pituitary. Note soft-tissue mass in right sphenoidal sinus.

 


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  		Fig. 3. —21-year-old woman with congenital combined pituitary hormone deficiency and heterozygous PROP1 mutations. Midsagittal MR image shows empty sella, normal stalk, and orthotopic pituitary. Arrow indicates posterior lobe.

 


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  		Fig. 4A. —MR images of siblings with congenital pituitary hormone deficiency with heterozygous PROP1 mutation. Midsagittal image of 13-year-old boy shows empty sella, concave superior surfaces, normal stalk, and orthotopic pituitary.

 


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  		Fig. 4B. —MR images of siblings with congenital pituitary hormone deficiency with heterozygous PROP1 mutation. Midsagittal (B) and coronal (C) MR images of 17-year-old sister shows normal anterior pituitary, flat superior surface, enlarged inferior part of the stalk, and orthotopic posterior pituitary.

 


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  		Fig. 4C. —MR images of siblings with congenital pituitary hormone deficiency with heterozygous PROP1 mutation. Midsagittal (B) and coronal (C) MR images of 17-year-old sister shows normal anterior pituitary, flat superior surface, enlarged inferior part of the stalk, and orthotopic posterior pituitary.

 

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