Evaluation of endocrine functions before and after enzyme replacement therapy in children with mucopolysaccharidosis

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dc.contributor.authorDündar, İsmail
dc.contributor.authorÇiftçi, Nurdan
dc.contributor.authorAkıncı, Ayşehan
dc.contributor.authorÇamtosun, Emine
dc.contributor.authorKayaş, Leman
dc.contributor.authorSığırcı, Ahmet
dc.contributor.authorYağın, Fatma Hilal
dc.date.accessioned2024-08-04T19:53:21Z
dc.date.available2024-08-04T19:53:21Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_US
dc.description.abstractThere 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.en_US
dc.identifier.doi10.5455/medscience.2022.03.053
dc.identifier.endpage1189en_US
dc.identifier.issn2147-0634
dc.identifier.issue3en_US
dc.identifier.startpage1184en_US
dc.identifier.trdizinid1131295en_US
dc.identifier.urihttps://doi.org/10.5455/medscience.2022.03.053
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1131295
dc.identifier.urihttps://hdl.handle.net/11616/89681
dc.identifier.volume11en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofMedicine Scienceen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleEvaluation of endocrine functions before and after enzyme replacement therapy in children with mucopolysaccharidosisen_US
dc.typeArticleen_US

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