ESPE Abstracts

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...

Objective: To explore the status and the main influencing factors of peripheral nerve conduction dysfunction in Chinese children and adolescents with type 1 diabetes mellitus (T1DM).Methods: Nerve electrophysiological indicators including amplitude, latency and conduction velocity of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve, common peroneal nerve and tibial nerve were collected, and the results ...

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...

Objectives: Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. This is the first study to examine the safety and efficacy of vosoritide in children with hypochondroplasia.Methods: Th...

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

Background: With the increasing survival rate of extremely premature infants, neonatal thyroid dysfunction is more frequently observed clinically. Despite the guidelines, the timing of screening for neonatal thyroid function remains controversial, especially for premature infants. At present, there is no unified standard for serum FT3, FT4 and TSH levels of newborns of different gestational ages and postnatal days.Objective:</str...

Objective: To assess the efficacy and influential factors of GnRHa treatment for Chinese CPP/EFP boys.Methods: From April, 1994 to June, 2020, 94 boys diagnosed with CPP or EFP who had reached the final adult height were retrospectively included. Among these patients, 41 patients received no treatment, 43 patients received GnRHa treatment alone and 10 patients received GnRHa + GH treatment. The final adult height and the...

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

Objective: To analyze the clinical characteristics and treatment of non-germinomatous germ cell tumor (NGGCT) in one girl with the initial onset of homosexual peripheral precocious puberty (PPP) and central diabetes insipidus (CDI) and eventually progressed into central precocious puberty (CPP).Methods: The clinical data of a girl who was diagnosed as NGGCT with the onset of PPP and CDI and eventually progressed into CPP...