Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome

Abstract

Objective: To characterize the endocrine phenotype of patients with Shwachman-Diamond syndrome (SDS).

Study design: Clinically indicated endocrine screening data from 43 patients with SDS or SDS-like presentation were analyzed according to sex, age, and genetic testing. In addition to 25 patients with biallelic Shwachman-Bodian-Diamond syndrome (SBDS) gene mutations, we evaluated 18 patients with cytopenias who were receiving pancreatic enzyme replacement but were without SBDS mutation. We performed a retrospective review of growth records and clinically indicated endocrine evaluations.

Results: Of patients with SBDS mutations, 2 had low stimulated growth hormone levels, 2 had mildly elevated thyrotropin levels, 5 had abnormal glucose levels, and 1 had an elevated follicle-stimulating hormone level (post transplantation). In contrast, 1 patient without SBDS mutations had postprandial hyperglycemia and 3 had mildly low free thyroxine levels without short stature. Endocrine abnormalities were identified in 19% of short patients and 26% of the whole group. Of patients with SBDS mutations, 56% had a height expressed in SD units from the mean for age and sex of <-1.8, in contrast to only 12% of patients without SBDS mutations (38% of the whole group). Body mass index z score was significantly greater in the group with SBDS mutations (P<.001).

Conclusion: Although short stature was more common in patients with SBDS mutations, no consistent endocrine phenotype was observed in patients with SDS regardless of genetic testing.

Conflict of interest statement

The authors declare no conflicts of interest.

Copyright © 2013 Mosby, Inc. All rights reserved.

Figures

Figure 1

Ht z score according to genetic testing, chronologic age, and sex, in 43 patients with SDS.

Figure 2

BMI, BMI z score, and Ht z score according to genetic testing and sex, in 43 patients with SDS.

Figure 3

BMI z score according to genetic testing, chronological age, and sex, in 43 patients with SDS.