ESPE Abstracts

Background: Symptomatic fasting hypoglycemia has been reported as an uncommon side effect in patients with acute lymphoblastic leukemia (ALL) on maintenance therapy with purine analogs. The exact mechanism of the hypoglycemic effect of the antimetabolic therapy remains unclear. The association of 6-mercaptopurine (6-MP) therapy with hypoglycemia and hyperinsulinemia has not been described previously.Case: A 6 9/12 years old girl with pre-B ALL and 6-MP t...

Introduction: Turner syndrome (TS) is characterized by short stature and premature ovarian failure. Genetic component of TS patients with diagnosis of inflammatory bowel disease has not been largely studied.Case Report: A 94/12-year-old girl with history of Crohn’s disease was evaluated for short stature. Her disease was well controlled with medications, however she continued with linear growth failure. Medical history included...

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...