Inonu University Faculty of Medicine, Department of Pediatric Endocrinology, Malatya, Turkey
There is a scarcity of data concerning endocrine function and the effects of enzyme replacement therapy (ERT) on growth and other endocrine functions in patients with mucopolysaccharidosis (MPS). This study retrospectively evaluated height increase, bone mineral density (BMD), and other endocrine functions in MPS patients who received ERT for at least two years in our clinic. The clinical findings, hormonal analysis (TSH, fT4, ACTH, cortisol, FSH, LH, testosterone, estradiol, prolactin, GH, IGF-1, IGFBP-3), and BMD measurements of 10 MPS patients, aged 0-18 years, before and after ERT were recorded and compared retrospectively. Four patients were MPS Type-2, five were MPS Type-4, and one was MPS Type-6. Nine of the patients were male, and one was female. The mean treatment onset age was 7.6 years. The mean ± standard deviation of the patients’ height SDS was -4.61±3.01 before treatment and -5.65±2.42 after treatment. While the mean BMD Z-score of the patients was -2.33±1.77 before treatment, it was -0.94±1.52 after treatment. Apart from growth retardation (one of the most prominent disease features), no severe dysfunction was detected in other endocrine organs in our patients with MPS. Severe short stature was evident at the time of diagnosis in MPS patients, and their height SDS worsened, despite ERT. However, osteoporotic BMD Z-scores at diagnosis improved after ERT. No serious dysfunction was seen in other endocrine organs.
Keywords: Mucopolysaccharidosis, enzyme replacement therapies, endocrine function, growth, bone mineral density
Conflict of interests: The authors declare that there is no conflict of interest in the study.
Financial Disclosure: The authors declare that they have received no financial support for the study.
Ethical approval: Subjects were enrolled following approval of the study protocol by the medical ethics committee (Ethics Committee of the Inonu University, approval number: 2021/2064), and receipt of written informed consent from parents.
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Dundar I, Cifci N, Akinci A, et al.
Evaluation of endocrine functions before and after enzyme replacement therapy in children with mucopolysaccharidosis . Med Science. 2022;11(3):1184-9.
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Corresponding Author: Kutay Saglam, Inonu University, Faculty of Medical, Department of Gastrointestinal Surgery, Liver Transplantation Institute, Malatya, Turkey.