J Korean Endocr Soc JKES Journal of Korean Endocrine Society 1015-6380 Korean Endocrine Society 10.3803/jkes.2007.22.4.272 Case Report A Case of Idiopathic Central Diabetes Insipidus together with Primary Empty Sella and Combined Pituitary Hormone Deficiency Ahn Sun Young Bae Kyu Hwan Kim Myung Hwan Lee Ji Hyun Shon Ho Sang Jung Eui Dal Department of Internal Medicine, Catholic University of Daegu School of Medicine, Korea. 08 2007 20 08 2007 22 4 272 276 28 02 2007 25 05 2007 Copyright © 2007 Korean Endocrine Society 2007

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.

 Central diabetes insipidus Combined pituitary hormone deficiency Primary empty sella Maghnie M Cosi G Genovese E Manca-Bitti ML Cohen A Zecca S Tinelli C Gallucci M Bernasconi S Boscherini B Severi F Arico M Central diabetes insipidus in children and young adults N Engl J Med 2000 343 998 1007 Mootha SL Barkovich AJ Grumbach MM Edwards MS Gitelman SE Kaplan SL Conte FA Idiopathic hypothalamic diabetes insipidus, pituitary stalk thickening, and the occult intracranial germinoma in children and adolescents J Clin Endocrinol Metab 1997 82 1362 1367 Greger NG Kirkland RT Clayton GW Kirkland JL Central diabetes insipidus. 22 years' experience Am J Dis Child 1986 140 551 554 Jeon HJ Park SH Kwon SH Lee SH Park KS Kim SY Lee HK Clinical Course of Idiopathic Central Diabetes Insipidus in Adults J Kor Soc Endocrinol 2001 16 190 198 Brooks BS el Gammal T Allison JD Hoffman WH Frequency and variation of the posterior pituitary bright signal on MR images AJR Am J Roentgenol 1989 153 1033 1038 Tien R Kucharczyk J Kucharczyk W MR imaging of the brain in patients with diabetes insipidus Am J Neuroradiol 1991 12 533 542 Kim SS Kim YH Shin YL Kim GH Kim TU Yoo HW Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging Horm Res 2003 60 277 283 Matisonn R Pimston B Diabetes insipidus associated with empty sella turcica Postgrad Med J 1973 49 274 276 Chung JH Lee EJ Chung YS Whang ES Ahn KJ Lim SK Kim KR Lee HC Huh KB Empty Sella Syndrome Associated with Diabetes Insipidus: Report of Two Cases J Kor Soc Endocrinol 1992 7 66 70 Kim ES Kim IJ Moon YJ Na SK Nam SY Lee EJ Kim KR Song YD Lim SK Lee HC Huh KB Primary Empty Sella Syndrome -Clinical and Endocrinologic Evaluation- J Kor Soc Endocrinol 1997 12 386 392 Blotner H Primary or idiopathic diabetes insipidus: a system disease Metabolism 1958 17 191 200 Kim BC Lee MY Kim YK Lee OJ Koong SS Oh TK A case of langerhans cell histiocytosis presented with central diabetes insipidus J Kor Endocrine Soc 2005 20 513 518 De Marinis L Bonadonna S Bianchi A Maira G Giustina A Primary Empty Sella J Clin Endocrinol Metab 2005 90 5471 5477 Lopez-Bermejo A Buckway CK Rosenfeld RG Genetic defects of the growth hormone-insulin-like growth factor axis Trends Endocrinol Metab 2000 11 39 49 Mullis PE Transcription factors in pituitary gland development and their clinical impact on phenotype Horm Res 2000 54 107 119 Netchine I Sobrier M-L Krude H Schnabel D Maghnie M Marcos E Duriez B Cacheux V Moers A Grossens M Gruters A Amselem S Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency Nat Genet 2000 25 182 186 Dattani MT Martinez-Barbera JP Thomas PQ Brickman JM Grupta R Martensson IL Toresson H Fox M Wales JK Hindmarsh PC Krauss S Beddington RS Robinson IC Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse Nat Genet 1998 19 125 133

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

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.

Combined pituitary function test

Changes of serum and urine osmolarity using desmopressin spray