open access

Ahead of print
Original paper
Published online: 2021-02-19
Submitted: 2020-11-22
Accepted: 2021-01-06
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Endocrine dysfunction in children with Shwachman-Diamond syndrome

Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Elżbieta Moszczyńska, Maja Klaudel-Dreszler, Grzegorz Oracz, Grzegorz Oracz, Joanna Pawłowska, Joanna Pawłowska, Mieczysław Szalecki, Mieczysław Szalecki
DOI: 10.5603/EP.a2021.0014
·
Pubmed: 33619711

open access

Ahead of print
Original Paper
Published online: 2021-02-19
Submitted: 2020-11-22
Accepted: 2021-01-06

Abstract

Introduction Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure and bone malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed in The Children’s Memorial Health Institute in Warsaw, Poland, to assess the prevalence of various endocrinopathies. Material and Methods In the pilot study, retrospective data were collected for 5 patients with SDS. Subsequently, patients with SDS aged 3-16 years were recruited prospectively. In total, 19 patients with mutations in SBDS gene were studied. Data were collected on anthropometric measurements, systemic screening tests of pituitary, thyroid, adrenal, pancreatic and gonadal function as well as bone mineral density. Descriptive statistics were tabulated and group differences assessed. Results Twelve patients (63%) had ≥ one endocrine disorder, including growth hormone dysfunction (ten patients, 53%), hypothyroidism (two patients, 10%), congenital hypopituitarism (one patient, 5%), and/or type 1 diabetes (one patient, 5%). The group of boys presented with a significantly lower height (-2.1 SD, p<0.0001) and BMI (-1.0 SD, p<0.00001). The group of girls also showed significantly lower height (-2.6 SD, p<0.00001) and BMI (-0.7 SD, p<0.0001). All patients had significantly lower height than their mid-parental height. Delayed bone age was found in 15 patients (84%) and osteopenia in 12 of 15 patients (80%). Conclusions Endocrine dysfunctions are common in SDS, especially growth hormone deficiency. Children with poor growth can benefit from an endocrinological evaluation and tests for GH deficiency. Bone mineral density measurements should be a part of a routine screening. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.

Abstract

Introduction Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure and bone malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed in The Children’s Memorial Health Institute in Warsaw, Poland, to assess the prevalence of various endocrinopathies. Material and Methods In the pilot study, retrospective data were collected for 5 patients with SDS. Subsequently, patients with SDS aged 3-16 years were recruited prospectively. In total, 19 patients with mutations in SBDS gene were studied. Data were collected on anthropometric measurements, systemic screening tests of pituitary, thyroid, adrenal, pancreatic and gonadal function as well as bone mineral density. Descriptive statistics were tabulated and group differences assessed. Results Twelve patients (63%) had ≥ one endocrine disorder, including growth hormone dysfunction (ten patients, 53%), hypothyroidism (two patients, 10%), congenital hypopituitarism (one patient, 5%), and/or type 1 diabetes (one patient, 5%). The group of boys presented with a significantly lower height (-2.1 SD, p<0.0001) and BMI (-1.0 SD, p<0.00001). The group of girls also showed significantly lower height (-2.6 SD, p<0.00001) and BMI (-0.7 SD, p<0.0001). All patients had significantly lower height than their mid-parental height. Delayed bone age was found in 15 patients (84%) and osteopenia in 12 of 15 patients (80%). Conclusions Endocrine dysfunctions are common in SDS, especially growth hormone deficiency. Children with poor growth can benefit from an endocrinological evaluation and tests for GH deficiency. Bone mineral density measurements should be a part of a routine screening. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.

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Keywords

Shwachman – Diamond Syndrome; Short stature; Growth hormone deficiency; Osteopenia

About this article
Title

Endocrine dysfunction in children with Shwachman-Diamond syndrome

Journal

Endokrynologia Polska

Issue

Ahead of print

Article type

Original paper

Published online

2021-02-19

DOI

10.5603/EP.a2021.0014

Pubmed

33619711

Keywords

Shwachman – Diamond Syndrome
Short stature
Growth hormone deficiency
Osteopenia

Authors

Agnieszka Bogusz-Wójcik
Honorata Kołodziejczyk
Elżbieta Moszczyńska
Maja Klaudel-Dreszler
Grzegorz Oracz
Grzegorz Oracz
Joanna Pawłowska
Joanna Pawłowska
Mieczysław Szalecki
Mieczysław Szalecki

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