ESPE Abstracts

Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. Variable degrees of external genitalia undervirilization are observed, ranging from micropenis to female-like genitalia and partially or fully-developed Mullerian derivatives.Case Report: A 6 years-old boy follow...

Background: Low birth weight (LBW) followed by a rapid postnatal catch-up in weight predisposes individuals to a central distribution of body fat, which is reverted by metformin. Growth-and-differentiation-factor-15 (GDF15) plays an important role in the regulation of energy homeostasis, reducing food intake and lowering body weight. We aimed to assess whether GDF15 concentrations are raised by long-term metformin treatment in LBW/catch-up girls with precociou...

Background: Epigenetic alterations due to maternal obesity may contribute to an increased metabolic risk in the offspring. IRS1 has a critical role in insulin signalling and its methylation has been previously associated with body fat distribution and glucose metabolism in human adipose tissue. The relationship between IRS1 methylation in birth tissues and obesity parameters in the offspring is unknown.Objective: To iden...

Background: Low vitamin D levels are prevalent in pediatric patients with type 1 diabetes mellitus (T1DM) and are associated with increased risk for insulin resistance, type 2 diabetes mellitus and cardiovascular disease. Little is known about associations between vitamin D levels and markers of metabolic syndrome in incident T1DM in children. The aim of our study was to analyze associations between D vitamin levels and metabolic markers in newly onset T1DM pe...

Background: Growth-and-differentiation factor-15 (GDF15) is a regulator of energy homeostasis, and is used as biomarker of several pathological states.Objectives: To assess longitudinally GDF15 concentrations in a cohort of infants born either appropriate- (AGA, n=70) or small-for-gestational-age (SGA, n=33), the latter known to be at increased risk for central adiposity and metabolic alteration...

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

Background: We recently reported three children with severe isolated growth hormone (GH) deficiency and pituitary hypoplasia due to biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. Although it is clear that these patients are GH deficient, the underlying mechanism for this deficit is not totally understood.Objective:...

Introduction: Short stature is defined as stature less than −2 standars deviations (SD) for a person’s age and sex of the reference population. Short for gestational age children (SGA) represent 20% of all children with short stature. 10% of these can not catch-up and remains their height below −2 SD. Growth hormone (GH) treatment is a recognized therapy for SGA children authorized in Europe at 4 years old. There are studies that support that younger children ...

Introduction: Recombinant GH is an effective treatment for short children who are born small for gestational age(SGA). Short children SGA who fail catch-up growth by 4 years of age are candidates for GH treatment, at a dose of 35–70 μg/kg per day. Factors associated with response to GH treatment during the initial 2–3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. It is important to kno...

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...