TY  - JOUR
TI  - Evaluation of endocrine functions before and after enzyme replacement therapy in  children with mucopolysaccharidosis
AB  - 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.
AU  - çamtosun, emine
AU  - KAYAŞ, LEMAN
AU  - Çiftci, Nurdan
AU  - Sığırcı, Ahmet
AU  - Dundar, Ismail
AU  - Akinci, Aysehan
AU  - YAĞIN, Fatma Hilal
DO  - 10.5455/medscience.2022.03.053
PY  - 2022
JO  - Medicine Science
VL  - 11
IS  - 3
SN  - 2147-0634
SP  - 1184
EP  - 1189
DB  - TRDizin
UR  - http://search/yayin/detay/1131295
ER  -