Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

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dc.authoridbayramoglu, elvan/0000-0002-6732-8823
dc.authoridCakir, Aydilek Dagdeviren/0000-0001-7136-9241
dc.authoridPoyrazoglu, Sukran/0000-0001-6806-9678
dc.authoridberberoglu, merih/0000-0003-3102-0242
dc.authoridsiklar, zeynep/0000-0003-0921-2694
dc.authoridBas, Firdevs/0000-0001-9689-4464
dc.authoridAYDIN, HASAN MURAT/0000-0001-7374-229X
dc.authorwosidbayramoglu, elvan/AAH-7316-2020
dc.authorwosidCakir, Aydilek Dagdeviren/AAS-1347-2021
dc.authorwosidCakir, Aydilek Dagdeviren/AAR-7580-2021
dc.authorwosidPoyrazoglu, Sukran/AAT-3938-2020
dc.contributor.authorCakir, Aydilek Dagdeviren
dc.contributor.authorBas, Firdevs
dc.contributor.authorAkin, Onur
dc.contributor.authorSiklar, Zeynep
dc.contributor.authorOzcabi, Bahar
dc.contributor.authorBerberoglu, Merih
dc.contributor.authorGoksen, Damla
dc.date.accessioned2021-12-01T18:51:09Z
dc.date.available2021-12-01T18:51:09Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractObjective: 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.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2021.2020.0228
dc.identifier.endpage319en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue3en_US
dc.identifier.pmid33565750en_US
dc.identifier.scopus2-s2.0-85113322532en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage308en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2021.2020.0228
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10973
dc.identifier.volume13en_US
dc.identifier.wosWOS:000688079700008en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal Of Clinical Research In Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPrader-Willi syndromeen_US
dc.subjectendocrine dysfunctionen_US
dc.subjectgrowth hormone treatmenten_US
dc.subjectbody compositionen_US
dc.subjectCentral Adrenal Insufficiencyen_US
dc.subjectNormal Cortisol Responseen_US
dc.subjectBody-Compositionen_US
dc.subjectDose Synacthenen_US
dc.subjectGh Therapyen_US
dc.subjectChildrenen_US
dc.subjectHypogonadismen_US
dc.subjectPrevalenceen_US
dc.subjectConsensusen_US
dc.subjectAdolescentsen_US
dc.titleClinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndromeen_US
dc.typeArticleen_US

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