Evaluation of Short Stature, Carbohydrate Metabolism and Other Endocrinopathies in Bloom’s Syndrome

Vol. 66, No. 3, 2006

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Original Paper

Evaluation of Short Stature, Carbohydrate Metabolism and Other Endocrinopathies in Bloom's Syndrome
Alejandro Diaz, Maria G. Vogiatzi, Maureen M. Sanz, James German

Department of Pediatrics, New York Presbyterian Hospital, Weill-Cornell Medical College, New York, N.Y., USA

Address of Corresponding Author

Horm Res 2006;66:111-117 (DOI: 10.1159/000093826)

Key Words

Diabetes
Short stature
Dwarfism
Insulin resistance
Hypothyroidism

Abstract

Aims: To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom's syndrome (BS). Methods: Admission for 5-day periods to an NIH-supported Clinical Research Center of a randomly selected population of persons with BS (n = 11; mean age 11.5 years, range 9 months to 28.5 years) for clinical and genetic history-taking, physical examination, and endocrinological, gastroenterological and immunological testing. Results: An oral glucose tolerance test was performed in all participants. Impaired glucose tolerance was present in 4 individuals, insulin resistance was observed in 6 individuals, and previously unrecognized diabetes was found in 1. Growth hormone provocation was normal in the 10 individuals tested. Overnight frequent GH sampling was suggestive of neurosecretory dysfunction in 3. Compensated hypothyroidism was found in 2 participants. Lipid profile abnormalities were present in 5 of 10 individuals. Low immunoglobulin concentrations (IgG and/or IgM) were seen in all tested. Intestinal absorption by D-xylose and/or fecal fat measurement was normal in all individuals tested as well. Conclusion: Altered carbohydrate metabolism is very common in BS, and is present from childhood. BS dwarfism is not related to growth hormone deficiency or malabsorption. The basis for the growth restriction in BS remains to be elucidated.

Author Contacts

Maria Vogiatzi, MD
Department of Pediatrics, New York Presbyterian Hospital
Weill-Cornell Medical College, 525 East 68th Street, Room M602
New York, NY 10021 (USA)
Tel. +1 212 746 3462, Fax +1 212 746 3807, E-Mail mvogiatz@med.cornell.edu

Article Information

Received: December 30, 2005
Accepted: April 8, 2006
Published online: June 9, 2006
Number of Print Pages : 7
Number of Figures : 0, Number of Tables : 4, Number of References : 22

Medline Abstract (ID 16763388)

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