ESPE Abstracts

Introduction: The annual incidence of severe influenza infections reaches 5 million cases globally. Patients with diabetes mellitus (DM) are known to suffer more severe influenza infections, with increased mortality. Despite vaccination being recommended as standard of care, vaccination uptake rates have remained low for our DM patients. We undertook a quality improvement (QI) initiative to improve influenza vaccination uptake rates in our paediatric DM clinic...

Background: Schaaf-Yang syndrome is caused by heterozygous mutation in the MAGEL2 gene (605283) on chromosome 15q11. Schaaf-Yang Syndrome is an autosomal dominant multisystem disorder characterized by psychomotor and mental retardation, hypotension, and behavioral abnormalities. Additional signs include joint contractures, feeding difficulties and various dysmorphic features. The severity of the disorder varies greatly: some patients may live with moderate dis...

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

Objective: To highlight the clinical characteristics and early genetic diagnosis of Schaaf-Yang syndrome (SYS).Methods: Three cases were reported and related literature were reviewed.Results: All the three patients were diagnosed with Schaaf-Yang syndrome attributing to the variation of MAGEL2 gene. Two of the patients predominantly presented as "language dysplasia&#34...

Background/Aims: Schaaf-Yang syndrome (SYS) is a rare disorder caused by a truncating mutation in the gene MAGEL2, located in the Prader-Willi critical region on chromosome 15. SYS is characterized as a Prader-Willi-like (PWL) disorder, with neonatal hypotonia, feeding problems in early infancy and intellectual disability, obesity and behavioral problems throughout childhood. In this case report we describe a 15-year-old girl, receiving GH treatment since age ...

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

Background: Beta-ketothiolase deficiency is a rare autosomal recessive disease caused by ACAT1 gene mutation. Only 100 cases have been reported up to now.Methods: Among the 13 patients, four were diagnosed in our institute, and 9 were from a literature review of all reported Chinese cases. Two patients were diagnosed with newborn screening, and the others were diagnosed after ketoacidotic episodes. Clinical characteristics, laboratory and molecu...

Background: Given the absence of a systematic evaluation of general public’ attitudes towards the storage and use of newborn screening (NBS) blood samples for research in China, we firstly conducted this internet-based survey to explore these issues.Methods: We conducted a national-based internet survey with self-designed questionnaire. We mainly studied three categories: 1) the willingness to have their children’s residual NBS samples used for...

Background: Prader-Willi syndrome (PWS) is a rare complex genetic disorder caused by an absence of expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the perinatal features in a cohort of Chinese individuals with PWS.Methods: We analyzed anonymous data of 134 patients from the PWS Registry in China. Perinatal and neonatal presentations were analyzed, and ...

Introduction: MKRN3, kisspeptin and IGF-1 maybe involved into the initiation of puberty. The aim of our research is to evaluate the differences of serum IGF-1, MKRN3 and kisspeptin in girls with central precocious puberty, rapidly progressive puberty, premature thelarche and controls, and further assess the value of IGF-1 in puberty initiation.Methods: The patients enrolled in the study were divided into four groups: central precocious puberty (CPP), rap...