ESPE Abstracts

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...

Celiac Disease is being increasingly recognised among Asians, but the spectrum of presentation may differ from that of Caucasian populations. The clinical phenotypes of celiac disease and diseases of gluten intolerance have not been well studied in Singaporean patients. We describe the clinical, biochemical and genetic phenotype of each seropositive individuals from a single private sector paediatric endocrinology clinic in Singapore over the period 2008 to 2020. These 67 pati...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

Paraneoplastic Cushing syndrome is extremely rare. To date, there are few reported cases related to Wilms' tumor. We describe a patient who presented with Cushing syndrome and was subsequently found to have Wilms' tumor. Our patient is a 9 year-old boy, who presented with hyperphagia and excessive weight gain for 3 months. His abdomen was also progressively bigger. There was no ingestion of steroids or traditional medication. Subsequently he sought medical advice becau...

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...

Background: CPP is commonly treated with triptorelin, a gonadotropin-releasing hormone (GnRH) analogue. It is available as 1-month and 3-month prolonged-release (PR) formulations, but only the former is approved for CPP in China. Overseas studies have proved the efficacy and safety of triptorelin 3-month PR formulation; this study evaluated efficacy and safety in Chinese children with CPP.Methods: In this 12-month, open-...

Background: The phases of human growth are associated with gene expression (GE) changes1, raising the possibility that rhythmic patterns of GE occur throughout childhood.Objective: In this study, we have assessed time-series patterns of GE profiles associated with age to characterise oscillations.Methods: GE analysis was conducted on cells of lymphoid origin from normal individuals through childhood (n=87, 43 ma...