Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome
Aydilek Dağdeviren Çakır1, Firdevs Baş2, Onur Akın3, Zeynep Şıklar4, Bahar Özcabı5, Merih Berberoğlu4, Aslı Derya Kardelen2, Elvan Bayramoğlu6, Şükran Poyrazoğlu2, Murat Aydın7, Ayça Törel Ergür8, Damla Gökşen9, Semih Bolu10, Zehra Aycan6, Beyhan Tüysüz11, Oya Ercan1, Olcay Evliyaoğlu11İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey2İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
3University of Health Sciences Turkey, Gülhane Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
4Ankara University, Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
5University of Health Sciences Turkey, Zeynep Kamil Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
6University of Health Sciences Turkey, Ankara Dr. Sami Ulus Obstetrics and Gynecology and Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
7Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey
8Ufuk University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
9Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
10Düzce University Faculty of Medicine, Department of Pediatric Endocrinology, Düzce, Turkey
11İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Genetics, İstanbul, Turkey
Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey.
Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated.
Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged.
Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.
Manuscript Language: English
