ESPE Abstracts

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

Background and Aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted interests as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus in mice. MOTS-c profiles have not yet been reported in type 1 diabetes (T1DM). We aimed to determine circulating MOTS-c levels in T1DM and explore the association between MOTS-c levels and various metabolic parameters.Metho...

Background: Several studies have shown that born small for gestational age (SGA) children have earlier precocious puberty, progress faster, and are less likely to gain target height in adults than children born appropriate for gestational age (AGA). Moreover, SGA children are more prone to metabolic disorders - obesity, diabetes and cardiovascular disease.Objective: To compare the physical development status, serum lipid...

Background and aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). MOTS-c profiles have not yet been reported in human obesity and T2DM. We aimed to determine circulating MOTS-c levels in obesity and explore the association between MOTS-c levels and various metabolic parameters. Methods: In this case-control study, 40 obese chil...

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

Background: Evidence of the association between vitamin D, insulin resistance and oral disposition index (oDI) in obese children and adolescents is limited.Objective and hypotheses: We investigated serum 25(OH)D levels in obese children and adolescents in Zhejiang, China, and determined the relationship between serum 25(OH)D and glucose metabolism.Method: A cross-sectional design was used. All together 348 obese and 445 non-obese c...