ESPE Abstracts

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

Background: The current diagnostic criteria for Prader–Willi syndrome (PWS) although widely accepted, is challenging to be implemented in Chinese population.Objective and hypotheses: The present study collected PWS cases from 12 centres across China. By analysing the clinical manifestation during early infancy, we aimed to provide data for clinical characteristics, screening strategy and effect of GH treatment in Chinese PWS patients.<p class="a...

Introduction: Action4Diabetes (A4D) is a non-profit UK organisation formed in 2016 that is making sustainable and scalable progress to provide quality Type 1 diabetes (T1D) healthcare in Southeast Asia (SEA). A4D provides comprehensive partnership programmes through a Memorandum of Understanding (MOU) signed with the governments in SEA that guarantees ongoing supplies of free insulin, blood glucose testing, HbA1c tests and hospital emergency funds in low-middl...

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...