ESPE Abstracts

Background: Among their metabolic effects, GH and its mediator IGF1 have been reported to influence hematopoiesis. Indeed, GH/IGF1 axis promotes erythropoiesis and GH deficiency (GHD) has been associated with a normochromic and normocytic anemia both in adults and in children. In contrast, in vivo data on the effects of GH/IGF1 axis on leukocytes and platelets are scanty.Objective and hypotheses: To evaluate the effects of 4-years GH replacement...

Context: Prenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg/d has been used for decades in prenatal CAH. Despite the risks for the treated mother and potentially for the unborn child, no clinical study or evaluation had been conducted in order to determine a Dex dose with a scientific rat...

Background: Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, 9 cases have been described in the lit...

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). The syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, often alopecia and severe hypocalcemia.Objectives: To study the effectiveness of our designed protocol of continuous high dose intracaval calcium infusion for the tre...

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...

Objective: to determine risk factors of co-existing thyroid autoimmunity in children with type 1 diabetes mellitus (T1D&Mcy;).Material and Methods: 48 children with combined autoimmune pathology (45 – with T1D&Mcy; and autoimmune thyroiditis and 3 – with T1D&Mcy; and Grave’s disease) – main group, age 12.51&pm;3.57 years) and 99 patients with only T1DM (comparison group, age 11.76&pm;3.05 years) w...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

Background: Cleidocranial dysplasia (CCD) is a very rare dominantly inherited autosomal bone disorder mainly characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature, and other changes in skeletal patterning and growth. Heterozygous loss-of-function mutations cause the majority of the abnormalities in the run-related transcription factor 2 gene (RUNX2). This gene is located on chromosome 6p21 and i...

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Mutations in HMGA2 have recently been identified causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective:...