J Korean Endocr Soc.  2007 Aug;22(4):272-276. 10.3803/jkes.2007.22.4.272.

A Case of Idiopathic Central Diabetes Insipidus together with Primary Empty Sella and Combined Pituitary Hormone Deficiency

• Ahn SY
• Bae KH
• Kim MH
• Lee JH
• Shon HS
• Jung ED

• KMID: 2063537
• DOI: http://doi.org/10.3803/jkes.2007.22.4.272

Abstract

Central diabetes insipidus is a heterogeneous condition that is characterized by polyuria and polydipsia, and this is due to a deficiency of arginine vasopressin. Central diabetes insipidus is rare in children and young adults, and up to 50 percent of cases are idiopathic. Genetic abnormalities in the homeobox genes have recently been shown, on sellar magnetic resonance imaging, to be associated with combined pituitary hormone deficiency with pituitary defect. We report here on a 44-year-old female who suffered from polydipsia, polyuria and primary amenorrhea since childhood. She was diagnosed with idiopathic central diabetes insipidus together with primary empty sella and combined pituitary hormone deficiency. On the genetic analysis, she was proven to have a point mutation of the PROP-1 gene, which is known as a cause of combined pituitary hormone deficiency.

Keyword

Central diabetes insipidus; Combined pituitary hormone deficiency; Primary empty sella

MeSH Terms

Adult
Amenorrhea
Arginine Vasopressin
Child
Diabetes Insipidus, Neurogenic*
Female
Genes, Homeobox
Humans
Magnetic Resonance Imaging
Point Mutation
Polydipsia
Polyuria
Young Adult
Arginine Vasopressin

Figure

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  Fig. 1 Simple X-ray of skull lateral view (A) shows no enlarged sella and hand (B) shows epiphyseal plate fusion.

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  Fig. 2 Sella MRI T-1 weighted coronal (A) and sagittal (B) images of the case show pituitary fossa filled with cerebrospinal fluid without definite focal pituitary mass lesion and show atrophied pituitary stalk.

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