| Title: |
Benefits and challenges in conducting long-term growth hormone therapy in patients with Prader-Willi syndrome |
| Authors: |
Antonova Olga Sergeevna; Kathom Hadil Mohamed; Grigorov Evgeni; Staneva Rada Georgieva; Hadjidekova Savina Petrova; Toncheva Draga Ivanova; Avdjieva-Tzavella Daniela Mircheva |
| Source: |
Genetika, Vol 52, Iss 1, Pp 149-160 (2020) |
| Publisher Information: |
Serbian Genetics Society |
| Publication Year: |
2020 |
| Collection: |
Directory of Open Access Journals: DOAJ Articles |
| Subject Terms: |
pws; growth hormone; treatment; mupd; Genetics; QH426-470 |
| Description: |
The purpose of this report is to comment the results from long-term growth hormone (GH) treatment of Bulgarian patients suffering from rare genetic disease-Prader-Willi syndrome (PWS) with reference to the age, body composition, complications and genetic etiology. Statistical analysis was performed by ANOVA with post hoc Kruskal-Wallis test and Dunn's multiple comparison tests. In 90% of the patients maternal uniparental disomy (mUPD) was found to be the cause of the disease. No cases due to imprinting defects are found. The BMI data shows no statistically significant difference between BMI at diagnosis (21.850), at the beginning of the GH therapy (21.852) and current BMI (24.09) - measured under the GH background. Early GH treatment allows to overcome arising obstacles in time and to improve the quality of life for PWS children and their families. During the fourteen years study period only ten patients were diagnosed with the disease. Ninety percent (n=9) of the children were found to be with maternal UPD (mUPD) and only one case was due to deletion in 15q11-13. These results are in agreement with other studies in the field which shows the need for reassessment and new robust statistical analysis of the frequency of genetic mechanisms for PWS. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
https://doaj.org/toc/0534-0012; https://doaj.org/toc/1820-6069; https://doaj.org/article/f10c5cb553e3469290e20893cd1e3086 |
| DOI: |
10.2298/GENSR2001149A |
| Availability: |
https://doi.org/10.2298/GENSR2001149A; https://doaj.org/article/f10c5cb553e3469290e20893cd1e3086 |
| Accession Number: |
edsbas.66A0BDAB |
| Database: |
BASE |