This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Craig A. Alter, MD; Thomas Moshang, Jr, MD

Am J Dis Child. 1993;147(1):97-99.

Abstract
• Objective.
—To investigate if there is an endocrinologic explanation for the short stature in patients with Alström syndrome.

Design.
—Patient reports.

Setting.
—The Children's Hospital of Philadelphia, Pa.

Participants.
—Two siblings with Alström syndrome who were referred to the Endocrine Division for evaluation of obesity, growth, and glucose metabolism.

Interventions.
—None.

Measurements/Main Results.
—The low growth velocity in both patients prompted growth hormone evaluation. The abnormal results of two provocative tests of growth hormone function, as well as low concentrations in frequent overnight sampling of serum growth hormone, were compatible with growth hormone deficiency. However, the patients had advanced bone ages, early normal growth, and normal insulinlike growth factor 1 concentrations. The results of the glucose tolerance tests revealed marked elevation of insulin (5955 pmol/L and 7677 pmol/L) and glucose intolerance consistent with insulin resistance. Pituitary stimulation studies revealed normal thyroid and gonadotropin axes.

Conclusions.
—Growth hormone deficiency may account for the short stature in some patients with Alström syndrome. The advanced bone age and normal early growth may be due to hyperinsulinism. A specific defect in the signal transduction of insulin action and possibly hormone spillover on another receptor may account for the existence of insulin resistance in the presence of normal growth and growth hormone deficiency.

(AJDC. 1993;147:97-99)

Author Affiliations
From the Division of Endocrinology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine.

Footnotes
Accepted for publication July 28, 1992.

Reprint requests to the Department of Pediatric Endocrinology, The Children's Hospital of Philadelphia, One Children's Center, 34th Street and Civic Center Blvd, Philadelphia, PA 19104-4399 (Dr Moshang).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alstrom Syndrome
Malm et al.
Arch Ophthalmol 2008;126:51-57.
ABSTRACT | FULL TEXT  

Syndromic Obesity and Diabetes: Changes in Body Composition with Age and Mutation Analysis of ALMS1 in 12 United Kingdom Kindreds with Alstrom Syndrome
Minton et al.
J. Clin. Endocrinol. Metab. 2006;91:3110-3116.
ABSTRACT | FULL TEXT  

Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
ZUMSTEG et al.
J. Med. Genet. 2000;37:8e-8.
FULL TEXT