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

Abstract

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.

Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome

“…The incidence of spinal deformities was as high as 21.88%, which was similar to previous studies [ 49 , 50 ]. Whether it is associated with rhGH treatment is unknown, as nonrhGH treatment data were not included in this study.…”

Positive effects of ketogenic diet on weight control in children with obesity due to Prader–Willi syndrome

“…Improvement in body composition and physical strength was reported with recombinant human growth hormone therapy 43 . While growth hormone therapy significantly increases height SD score in PWS patients, its effect on BMI SD Score is debatable 44 . In the present study, no significant effect of diet on height SD score was detected.…”

Are androstenedione, dihydrotestosterone, thyroid‐stimulating hormone, insulin‐like growth factor I, and insulin‐like growth factor binding protein 3 necessary for isolated micropenis healthy boys' evaluation without any phenotypic abnormalities? A cross‐sectional study

“…Their most common findings were no puberty (8.9%), delayed puberty (35.6%), absent (52.6%) or delayed growth spurt (31.6%), and micropenis (67.2%). Another study by Dağdeviren Çakır et al (2021) evaluated 52 children with GHD. Hypotonia (55.7%), feeding problem (36.5%), obesity (30.7%), cryptorchidism (69.2%), and small penis (15.3%) were the most clinical presentations.…”

“…Hypotonia (55.7%), feeding problem (36.5%), obesity (30.7%), cryptorchidism (69.2%), and small penis (15.3%) were the most clinical presentations. They suggested that IFG‐I should be measured in children with specific phenotypes such as midline anomalies, growth retardation, delayed puberty, small testis, and micropenis (Cannarella et al, 2021; Dağdeviren Çakır et al, 2021; Juul & Skakkebæk, 2019). However, our study demonstrated that IGF‐I levels were normal in most isolated micropenis healthy children without other genitalia and physical abnormalities, and no significant relationship was observed with penis size.…”