Endocrine Abstracts

JOINT1664

Introduction: Schaaf-Yang syndrome (SYS) is the result of loss of function of the MAGEL2 gene (point mutations in the gene) within chromosome 15q11-13. A microdeletion or paternal disomy (pUPD) region of chromosome 15q11-13 is the cause of the better known Prader-Willi syndrome (PWS). Due to the genetic basis, both syndromes show a high similarity of symptoms in infancy, i.e. hypotonia, feeding problems, sleep apnoea, hypogonadism, but also intellectual developmental delay and low stature. Autism spectrum disorders and joint contractures are additionally observed in SYS patients. Studies show undeniable benefits of rhGH therapy in PWS patients during childhood, as well as after end of growing. Benefits include, in addition to improved growth rate, improved body composition, improved lipid profile, increased bone mineral density and improved mental status along with quality of patients` life.

Aim: This study presents 4 children with genetically confirmed Schaaf-Yang syndrome. Health problems observed in the children were hypotonia, respiratory distress in the neonatal period, hypoglycaemia, psychomotor developmental delay, low stature and epilepsy, autism, joint contractures. Three children were qualified for growth hormone treatment under the programme for children with somatotropin hypopituitarism. We will compare anthropometric parameters including growth rate during therapy, biochemical parameters of blood, lipid, endocrine and carbohydrate metabolism, overall psychomotor development of the children and the impact of growth hormone treatment on family quality of life.

Conclusions: 1. Growth GH deficiency has been documented in Schaaf-Yang syndrome, therefore it is reasonable to treat these children with growth hormone from early life. 2. The validity of the child’s eligibility for growth hormone treatment from a different programme than for children with SNP based on the genetic diagnosis of the disease (no need for pituitary stimulation tests and radiological imaging) should be considered. 3. Given the similarity of SYS with PWS and the benefits of growth hormone therapy taking into account the promotion of growth and the positive metabolic impact, it is advisable to determine the optimal initial therapeutic dose of rhGH.