ESPE Abstracts

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...

Background: Obesity during childhood has been demonstrated to exert profound and lasting effects on bone strength and fracture risk. Furthermore, obesity is characterized by chronic inflammation and oxidative stress, with an increase in the mediators of innate immunity. It has been found that skeletal homeostasis is influenced by immune cells. LIGHT (lymphotoxin-like inducible protein that competes with glycoprotein D for herpesvirus entry on T cells) is emerging among cytokin...

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

Background: A significant number of long-term complications are reported in childhood acute lymphatic leukemia (ALL) survivors, and among them metabolic syndrome (MetS).Objective and hypotheses: To evaluate the prevalence of features of MetS. In addition, we evaluated the presence of steatohepatitis which is described in association with MetS in otherwise healthy subjects.Method: We assessed waist circumference, triglycerides level...

Background: Low bone mineral density (BMD) has been found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. However, the mechanism/s of low BMD in PWS have not been clarified. These patients also display high BMI-SDS that prompted us to evaluate the levels of LIGHTTNFSF14, a cytokine involved in pathological bone remodeling and obesity.Objecti...

The accumulation of adipose tissue, especially visceral fat, represents a risk factor for reduced bone mineral density and spontaneous fractures. Several mechanisms have been proposed to explain the complex relationship between adipose tissue and bone. Obesity is associated with the production of inflammatory cytokines both by adipocytes and immune cells which may stimulate bone resorption and reduce bone strength. Studies in vitro and in vivo have reported t...

Background: Type 1 diabetes (T1DM) is associated with low bone mineral density (BMD) and bone alterations, probably due to lack of insulin and chronic hyperglycemia. Sclerostin and Dickkopfs-1 (DKK-1) are Wnt signaling inhibitors involved in bone remodelling.Objective and hypotheses: To assess serum levels of DKK-1 and sclerostin in T1DM children and adolescents on continuous subcutaneous insulin infusion (CSII) or multiple daily therapy (MDI). We hypoth...

Background: Children born small for gestational age (SGA) are at increased risk of coronary heart disease and type 2 diabetes in adulthood, due to reprogramming of endocrine and metabolic functions. Dysregulation of specific miRNAs in response to genetic and environmental factors contribute to aberrant gene expression patterns underlying metabolic dysfunction.Objective and hypotheses: We aimed to identify miRNAs associated with increased risk of obesity ...

Background: Decreased bone mineral density (BMD) and increased fracture risk have consistently been observed in type 1 diabetes mellitus (T1DM). The influence of T1DM on BMD seems to depend on gender or patient’s age and to occur early after T1DM diagnosis. The mechanisms of decreased BMD in T1DM patients are still unknown.Objective and hypotheses: To investigate the serum levels of dickkopf-1 (DKK-1), a Wnt signaling inhibitor which decreases bone ...

Background: Low bone mineral density (BMD) is found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. This bone fragility could be due to inadequate gonadal hormones levels during pubertal development, and to relative growth hormone insufficiency during childhood and adolescence. However, the mechanism/s of low BMD in PWS have not been clarified.Objective and hypotheses: ...