ESPE Abstracts

Background: Recommendations for initial and maintenance dose of HC in CAH differ widely. However, treatment of CAH in young children is complicated by the lack of a suitable low-dose HC preparations.Methods: The German Society for Paediatric Endocrinology and Diabetology (DGKED) initiated a registry for patients with classical CAH (German CAH registry). Anonymized data are transferred for central analysis, including a validation step and a benchmarking r...

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...

Background: In the last decades a rapid increase in the incidence of childhood type I diabetes (TIDM) has been reported worldwide. To stop the progressively advancing process immunosuppressive and nutritional trials have been made, but failed. Epidemiological studies by our group performed in several countries have shown that the season during which children who developed TIDM were born differed from that in the general population; suggesting that the initial trigger for TIDM ...

Background: Recent studies showed that Rotavirus vaccination may affect the prevalence of type 1 diabetes (T1D). Our aim is to determine the prevalence of early childhood (<5 years) T1D before and during the introduction of Rotavirus vaccination in Israel by syndromic surveillance.Methods: Data on insulin purchases reported by Israel’s four health care organizations (HMOs) was retrieved from the National Program...

Background: Treatment of childhood and adolescent obesity is rarely effective if “cure” i.e., BMI below the obesity range, is used as the definition of success. However, results of obesity treatment is much more effective if treatment is initiated in 6–7 years old children. It is therefore urgent to develop interventions for young children, both preventive and obesity treatment efforts. Results from such interventions as well as preliminary results from ongoing ...

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: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...