ESPE Abstracts

Background: The diagnosis of 46,XY disorder of sex development (DSD) due to 5-alpha reductase 2 (5α-RD2) deficiency has been based on testosterone:dihydrotestosterone (T:DHT) ratio, urinary steroid profiling and mutational analysis of SRD5A2 gene. The biochemical hallmarks of 5α-RD2 deficiency include increased T:DHT ratio. However, several difficulties are observed in the DHT measurement leading to misdiagnosis. The mutational analysis of the SRD5A2 has been propose...

Background: Patients with autoimmune Addison’s disease (AAD) lack production of glucocorticoids (GCs), mineralocorticoids (MCs) and androgens from the adrenal gland, due to autoimmune destruction of its cortex. Patients require replacement of GCs and MCs for the rest of their lives. In some cases, testosterone is supplemented in females. Brain function is sensitive to fluctuations in cortisol and may therefore be affected in AAD due to long-term disturba...

Hypertension is a frequent chronic pathology in young diabetics. The association of diabetes and hypertension represents a high risk of morbidity and premature cardiovascular mortality. The aim of this study was to evaluate the frequency of hypertension in young diabetics and to assess the associated morbid factors.Patients and Methods: 357 diabetics aged 3 to 27 years (mean age: 10 years), were followed at the Children's Hospital o...

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...

A gradual reduction of national median HbA1c levels in England and Wales since 2009 can be attributed to development of a network approach to care supported by the National Paediatric Diabetes Audit (NPDA) and a Best Practice Tariff in England, introduced by the Department of Health in 2012. This delivery of a co-ordinated national programme of support for 173 multi-disciplinary teams distributed across over 140 NHS Trusts and Health Boards, has been at risk of plateauing in r...

Introduction: Long-standing primary hypothyroidism is an unusual cause of pituitary hyperplasia (PH) in children, sometimes difficult to distinguish on CT or MRI from primary pituitary tumors. Loss of thyroxine feedback determines overproduction of thyrotropin releasing hormone (TRH) and subsequent TSH-releasing cells hyperplasia in the anterior pituitary. Levothyroxine replacement therapy has been shown to usually determine regression of PH.<p class="abst...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...