ESPE Abstracts

Background: Diabetic neuropathy is among the least recognized complications of diabetes, despite its significant negative impact on survival and quality of life. Characteristic neuronal alterations may occur subclinically early in the course of the disease, even in childhood. The prevalence of subclinical neuropathy in paediatric population ranges from 7.9 – 19% in different studies.Objective and hypotheses: Our objective was to study the prevalence...

Background: A significant component of total linear growth is height gain achieved after the initiation of puberty. Children with Isolated GH Deficiency (IGHD) frequently come for evaluation around the peripubertal stage. Therefore, increasing pubertal height gain in IGHD children entering puberty with a relatively low height is important. Researchers have tried to assess effectiveness of treatment in such patients based on various key measurements and a variety of end-points....

Background: After 50 years of hGH use for GH deficient (GHD) children the definition of the adequate hGH substitution dose and response remain uncertain.Objective and hypotheses: We hypothesized that subjects with GHD caused by congenital pituitary defects constitute an ideal model for defining substitution dose of hGH. Consequently, an appropriate study group was formed and pertinent long-term data were retrospectively analyzed.Me...

Background: Hypothalamic hamartomas (HH) are congenital morphogenetic defects frequently associated with central precocious puberty (CPP).Objective and hypotheses: Data on the outcome of girls with CPP due to HH are limited.Method: We report two patients with CPP caused by HH, one with normal fertility.Results: Patient 1, now aged 33 years, was examined at age 15 months (vaginal bleeding, breast and pubic hai...

Background: In recent years, studies have consistently demonstrated higher TSH concentrations in overweight/obese children and adults compared with normal weight individuals, whereas the levels of thyroid hormones in peripheral blood remain within normal range. This euthyroid hyperthyrotropinemia on the background of a worldwide increase in childhood obesity raises the question of whether subjects with this elevated TSH should be treated.Objective and hy...

Background: Acute painful neuropathy (APN) is a rare manifestation of diabetic neuropathy (DN) in T1D adolescents, associated with poor metabolic control. Eating disorders (ED) often present in T1D patients in association with metabolic derangement, leading to the development of diabetic complications.Case presentation: A teenage girl aged 12 years with a recently diagnosed T1D (duration: 9 months) was admitted with diabetic ketoacidosis...

Background: Current literature suggests an important role of both endocrine disruptors and genetic factors in the occurrence of cryptorchidism.Objective and hypotheses: The aim of the study is to investigate the impact of variants in INSL3 and HOXD13 genes in the pathogenesis of isolated cryptorchidism in Greece. 43 boys with isolated cryptorchidism and 50 healthy non-cryptorchidic boys (control group) were enrolled.<p class="abstex...

Background: Endocrine impairments, such as diabetes insipidus (DI), growth hormone deficiency (GHD) and, to a lesser degree, thyroid or cortisol deficiencies, have been reported after traumatic brain injury (TBI) in adults and much less in children both at the acute post-traumatic phase and after a lag period of time. However, no prospective data exist on the endocrine and acute phase protein response to TBI in childhood.Aim/objective: To unravel possibl...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...