hrp0092p2-200 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine Features of Schaaf-Yang Syndrome. Case Report

Tolstikova Olena , Aharkov Serhii

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...

hrp0092p3-169 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Schaaf-Yang Syndrome:Three Cases Report of MAGEL2 Variation and Literature Review

Xuefei Chen , Chaochun Zou

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...

hrp0092p1-389 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Eight Years of Growth Hormone Treatment in a Patient with Schaaf-Yang Syndrome

Juriaans Alicia , Hokken-Koelega Anita

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 ...

hrp0095p1-280 | Fat, Metabolism and Obesity | ESPE2022

A rare cause of monogenic obesity: Schaaf-Yang syndrome due to a novel MAGEL2 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Guran Tulay , Bereket Abdullah , Turan Serap

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...

hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

hrp0092lb-21 | Late Breaking Posters | ESPE2019

How Can the Occurrence of Delayed Elevation of Thyroid Stimulating Hormone in Preterm Infants Born Between 35 and 36 Weeks Gestation be Predicted?

Jung Heo You , Ah Lee Young , Jeong Lee Yun , Hee Lim Youn , Rim Chung Hye , Han Shin Seung , Ho Shin Choong , Won Yang Sei

Objective: We evaluated frequency and risk factors of delayed TSH elevation (dTSH) and investigated follow-up outcomes in the dTSH group with venous TSH (v-TSH) levels of 6–20 mU/L according to whether late preterm infants born at gestational age (GA) 35–36 weeks had risk factors.Methods: The medical records of 810 neonates (414 boys) born at Seoul National University Hospital who had a normal neonatal screenin...

hrp0086p2-p309 | Diabetes P2 | ESPE2016

Clinical Characteristics of Latent Autoimmune Diabetes in Youth (Type 1.5 DM)

Lee Seung Ho , Huh Seung , Yu Jeesuk

Background: Diabetes mellitus (DM) in childhood was mostly type 1 DM (T1DM), but sometimes it is not easy to classify, especially in the case having both type 2 clinical phenotype and autoantibody positivity. It is named as latent autoimmune diabetes in youth or type 1.5 DM (T1.5DM).Objective and hypotheses: This study was designed to evaluate the clinical characteristics of T1.5DM who had autoantibody positivity with clinical phenotype of T2DM.<p cl...

hrp0086p2-p687 | Growth P2 | ESPE2016

Diagnostic Value of Growth Hormone Stimulation Test for Growth Hormone Deficiency in Short Children

Jeong Seung Yeon , Lee Seung Ho , Yu Jeesuk

Background: It is important to find and manage the cause of short stature in children. GH stimulation test is considered as a ‘gold standard’ for the diagnosis of GH deficiency (GHD), and several pharmacologic agents including insulin, glucagon, L-dopa, or clonidine are used for GH stimulation test (GHST). However, diagnostic value, sensitivity or specificity of each GHST is not clear.Objective and hypotheses: This study was desi...

hrp0089p3-p402 | Multisystem Endocrine Disorders P3 | ESPE2018

Clinical Characteristics and Outcome of Patients with Beta-Ketothiolase Deficiency in China

Lili Yang

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...

hrp0089p3-p411 | Multisystem Endocrine Disorders P3 | ESPE2018

General Public’ Attitudes Towards the Use and Storage of NBS Blood Samples for Research in China

Lili Yang

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...