ESPE Abstracts

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

ISS is a condition in which the height is more than 2 SD below the corresponding mean height for age, sex and population, in whom no identifiable disorder is present. Some ISS patients may have varying degrees of IGF-1 deficiency. Recombinant GH treatment has been used by some authors with variable results. Theoretically, low IGF-I level at presentation may affect their response to GH therapy. The question is: do children with ISS and low IGF-I respond differently to GH therap...

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

We evaluated growth parameters and endocrine disorders in relation to the quantity of liver iron (LIC) measured by the Ferriscan method and insulin-like growth factor 1 (IGF-I) level in a cohort of adolescents with sickle cell disease (SCD) (n=40) and beta thalassemia major (BTM) (n=52) receiving nearly the same protocol of transfusion and iron chelation therapy since early childhood. Before transfusion, hemoglobin concentration had not been less than 9 g/dl ...

Introduction: Panhypopituitarism is a deficiency of two or more pituitary hormones. Etiological causes of panhypopituitarism include pituitary developmental disorders, traumatic damage, inflammatory and neoplastic diseases affecting the pituitary, and vascular disorders. In this very rare condition, symptoms and signs related to anterior and posterior pituitary hormone deficiency can also be seen, as well as symptoms and findings related to etiological factors...

Background: It is not an uncommon situation that newborns have normal serum Ca, P, Mg, ALP, and PTH levels despite low vitamin D. Serum vitamin D binding protein (VDBG) may play a role for this situation. However, there is no any study investigated the relationship between serum vitamin D and VDBP in postnatal period.Objective and hypotheses: The aim of this study is to examine the relationship between serum vitamin D level and VDBP in neonates who have ...

Background: There are two main problems that should be solved when encountering adrenal incidentaloma. The first of these is to decide whether the adrenal mass is benign or malignant and the second is to determine whether the mass is hormonally active or not.Objective and hypotheses: We aimed to focus on the approach to adrenal masses in childhood.Method: A case of phaeochromocytoma, which was diagnosed as incidentaloma is presente...