ESPE Abstracts

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

Background & Objective: Indigenous children in Canada have higher rates of obesity and type 2 diabetes mellitus (T2DM) and diabetes-related complications when compared to non-Indigenous children. Indigenous knowledge-based view of health encompasses a holistic approach with physical, mental, emotional, and spiritual health dimensions. This view of health will likely impact their engagement in interventions targeting obesity and T2DM. This systematic review...

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

Objectives: To test whether Gabra5 in POMC neurons regulates energy balance and glucose metabolism in sexually dimorphic fashion.Methods: POMC-Cre mice received stereotaxic injections of AAV-FLEX-scCAS9 and AAV-FLEX-Gabra5-sgRNA-tdTOMATO into ARH to generate pomc-Gabra5 KO mice. Both male and female mice were fed on regular chow diet or HFD. Food intake, body weight and anal temperature were measured every 4 days. Fat/le...

Background: Growth patterns in infancy and early childhood have been linked to risks of obesity and cardiometabolic disorders in adulthood. Body fat partitioning, particularly increased fat accumulation at ectopic sites, has been strongly associated with cardiometabolic disorders. However, the lack of precise body composition measures in prior longitudinal birth-cohort studies has made it difficult to ascertain if early growth patterns could result in consolidation of distinct...

Objective: To observe and analyze the efficacy and safety of autologous stem cell transplantation (AHSCT) in children with type 1 diabetes.Methods: Twelve children were enrolled in our study who were newly diagnosed as type 1 diabetes in Children's Hospital of Fudan University from Sep. 2009 to Dec. 2011. Changes in the exogenous insulin requirement were observed and HbA1C and C peptide level were measured before and...

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Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

Background: FLNB encodes filamin B (FLNB), a protein expressed in human growth plate chondrocytes, building the cytoskeleton that gives structure to cells and allows them to change shape and move. Biallelic loss-of-function mutations in FLNB result in spondylocarpotarsal synostosis (SCT; OMIM: 272460), while heterozygous null mutations related isolated short stature (ISS) have not been well described previously.Objective:</strong...

Growth differentiation factor 5 (GDF5) was reported to regulate brown adipogenesis, however, its effects on insulin sensitivity, full metabolic syndrome spectrum and the thermogenesis in subcutaneous white adipose tissue (sWAT) haven't been elucidated yet. We thus generated fatty acid-binding protein 4 (Fabp4)-GDF5 transgenic mice and showed that GDF5 transgenic mice developed a relative lean phenotype on a high-fat diet (HFD) and showed increased insulin sensitivity. Over...