ESPE Abstracts

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...

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...

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: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

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...

Cornelia de Lange syndrome (CdLS) is a multisystem organ developmental disorder characterized by growth and cognitive deficits and premature aging, caused by mutations in genes coding for the cohesin complex. CdLS cells presented with gene expression dysregulation, genomic instability, decreased energy production and oxidative stress. Variants in the cohesin loading factor Nipped-B-like (NIPBL) gene can be identified in approximately 70% of cases and the ...

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until...

Objective: To investigate the relevant prognostic factors and long-term safety of gonadotropin-releasing hormone analogs (GnRHa) in the treatment of idiopathic central precocious puberty (ICPP).Methods: This was a retrospective study. Data analysis included 142 girls with ICPP who reached final adult height (FAH). Among them, 101 girls were treated with GnRHa while 41 girls were untreated. The Pearson and Spearman correl...

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...

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...