ESPE Abstracts (2016) 86 P-P2-883

aDepartment of Endocrinology, University of Medicine and Pharmacy “Gr. T. Popa” Iasi, Iasi, Romania; bDepartment of Genetics, University of Medicine and Pharmacy “Gr. T. Popa” Iasi, Iasi, Romania; cDepartment of Pneumology, University of Medicine and Pharmacy “Gr. T. Popa” Iasi, Iasi, Romania


Introduction: Prader-Willi Syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2–q13, characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity and endocrine dysfunctions as hypogonadism and GH deficiency (GHD).

Cases report: We present 3 cases: 2 females and 1 male with specific clinical features of PWS and genetic confirmation. After the age of 1, they presented hyperfagia with rapid weight gain. The boy had the first endocrinological examination at the age of 17 years and presented epiphyseal closure, with a final height of 159 cm (−2.7 S.D.) and moderate overweight. In spite of confirmed GHD, no treatment was initiated because of parents’ option. At the age of 10, first girl had important obesity (+10 S.D.) and a surprising height at +2 S.D. despite of partial GHD. With strict diet, her weight did not excessively increase. She had low hormones of gonadal axis and her actual height remains higher than expected (−0.5 S.D.). Although basal GH remains low and IGF1 at the inferior limit, the association of confirmed sleep apnea temporized the GH treatment. At the first endocrinological examination at the age of 6, MF presented moderate obesity (+3 S.D.), high normal height (+2 S.D.). The confirmed GHD, with the possible aggravation of obesity, in the absence of sleep apnea, justified the rhGH therapy. With rigorous alimentation and constant psychological and parental support, their weight did not excessively increase.

Conclusion: GH therapy in PWS represents a unique therapeutic challenge with varied therapeutic goals that are not focused exclusively on increased height. GH treatment is recommended and should be individualized for patients with PWS in conjunction with dietary, environmental and lifestyle interventions, the major concern being aggravation of sleep apnea.

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