ESPE Abstracts

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Introduction: The ESPE e-learning web-portal (www.espe-elearning.org) was developed to address gaps in education in pediatric endocrinology and diabetes and was first published online in 2012. Since then, it has been utilized in different settings and applications. Here, we present its utilization in a series of e-learning and e-consultation webinars in collaboration with the Indonesian Pediatric Society (IDAI- Ikatan Dokter Anak Indonesia).<p class="abste...

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

Background: Growth hormone therapy can be indicated for children who are born small for gestation age (SGA) (either birth weight or birth height < -2 SDS) without catch-up growth (height < -2.5 SDS) at age 4 years. Growth hormone therapy is considered a safe treatment.Case presentation: A 12-year-old girl was referred to the pediatric endocrinologist for short stature. She was born small for gestational age (birth ...

Background: ROHHADNET syndrome is characterised by rapid onset childhood obesity, hypoventilation, variable hypothalamic-pituitary and autonomic dysfunction, and neuroendocrine tumors in 30–40%. Autoimmunity and paraneoplastic syndrome have been proposed as possible pathophysiological mechanisms, but the exact aetiology remains unclear.Objective and hypotheses: We present the clinical course of ROHHADNET syndrome in a 17-year-old girl, with consecut...

Background: In diabetic athletes, glycogen depletion can contribute to the early development of starvation ketones as is demonstrated by our patient.Case presentation: Our patient, a 15-year-old male triathlete with type 1 diabetes for 5 years was referred to our tertiary center because of suboptimal regulation on continuous subcutaneous insulin infusion (CSII). He frequently awoke with nausea and ketosis, which was initially attributed to failure of ins...

Background: H2O2 produced in large quantities in the thyroid may play a role in the pathogenesis of thyroid nodules and cancer. In vitro, moderate amounts of H2O2 are able to cause similar DNA damage compared to irradiation and even to induce RET/PTC rearrangements.Objective and hypotheses: We compared the defence mechanisms against H2O2 and irradiation in human thyrocytes, T-cell...

Background: H2O2 produced in large quantities in the thyroid may play a role in the pathogenesis of thyroid nodules and cancer. In vitro, moderate amounts of H2O2 are able to cause similar DNA damage compared to irradiation and even to induce RET/PTC rearrangements.Objective and hypotheses: We compared the defence mechanisms against H2O2 and irradiation in human thyrocytes, T-cell...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

This presentation briefly gives an overview of typical gynaecological issues and fertility options of transgender adolescents.Typical gynaecological complaints and treatment options will be addressed: e.g. amenorrhea induction prior to cross-sex hormones, irregular bleeding, dysmenorrhea, vaginal discharge but also the limitations of gynaecological examination in female asssigned adolescents.National and international organizations...