Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome

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• 作者：Kasiani C. Myers ; MD¹ ; Susan R. Rose ; MD² ; Meilan M. Rutter ; MB ; BCh ; FRACP² ; Parinda A. Mehta ; MD¹ ; Jane C. Khoury ; PhD³ ; Theresa Cole ; RN¹ ; Richard E. Harris ; MD¹
• 关键词：BMI ; Body mass index ; FSH ; Follicle-stimulating hormone ; FT4 ; Free thyroxine ; GH ; Growth hormone ; GHD ; Growth hormone deficiency ; HbA1c ; Glycosylated hemoglobin ; HCT ; Hematopoietic cell transplantation ; IGF-I ; Insulin-like growth factor-1 ; OGTT ; Oral gluc
• 刊名：The Journal of Pediatrics
• 出版年：2013
• 出版时间：June, 2013
• 年：2013
• 卷：162
• 期：6
• 页码：1235-1240.e1
• 全文大小：380 K

文摘

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class=""h4"">Objective

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

class=""h4"">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.

class=""h4"">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).

class=""h4"">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.