ESPE Abstracts

Background: Paediatric adrenocortical tumours (ACT) are rare and typically present with virilising symptoms and signs which can be similar to other virilising conditions such as congenital adrenal hyperplasia.Case description: We describe three cases of ACT diagnosed and managed at our institution over the past 10 years. The three girls presented with symptoms of virilisation. The mean interval between first symptoms and diagnosis was 19.6 months (rangin...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

Introduction: The overall age-adjusted incidence of type 1 diabetes (T1DM) varied from 0.1/100,000 per year in China and Venezuela to 36.8/100,000 per year in Sardinia and 36.5/100,000 per year in Finland. This represents a 350-fold variation in the incidence among the 100 populations Worldwide. In the early 1990s, T2DM it was representing about 3 percent only of pediatric diabetes in the United States, but by 2003, T2DM reached about 20 percent of pediatric diabetes.<p cl...

Background: GH therapy for GH deficient (GHD) children in Russia is fully state funded as part of the ‘Seven high expenditure diseases’ (7HED) federal program. Thus, it is important to thoroughly understand the disorder, including its epidemiology. In Russia, there are two parallel functioning registries: the official federal medical statistics (OFMS) which provides purely statistical information and the 7HED registry which must contain a patient’s data to make ...

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...

Introduction: Delayed puberty is defined as the absence of physical signs of puberty by the age of 14 years in boys and 13 years in girls. According to this definition, the prevalence of delayed puberty would be 2%, if the ages of pubertal onset were normally distributed in the population. However, the prevalence or incidence of delayed puberty has not been described before, as far as we know. Our aim was to study the incidence of delayed puberty in central Sweden.<p class...

Objective: Early genital surgery has been the routine practice in virilized girls with severe forms of CAH for many years. During the last decade studies have shown genital surgery to have unsatisfactory effects on genital sensation and sexuality, and the current practice with early surgery has been questioned by patients and support groups as well as by clinicians and researchers. As surgery has been postponed in only few girls, published data on the effect of hydrocortisone ...

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

The aim: Of this study was to describe longitudinal changes in body composition and serum leptin, ghrelin and adiponectin levels over 36-month period in prepubertal rhythmic gymnasts (RG) and their age-matched untrained controls (UC) entering into puberty.Methods: 35 RG (mean age 8.0±0.6 years) and 33 UC (8.2±0.6 years) were followed at 12-month intervals for the next 3 years. Height, weight, pubertal stage, body composition by DXA and serum le...