ESPE Abstracts

Background: Silver-Russell syndrome (SRS) is characterized by small for gestational age (SGA) birth, severe short stature and variable dysmorphic features. Children born SGA are at increased risk to develop adult-onset disease at a relatively young age. Growth hormone (GH)-treatment is a registered growth-promoting therapy for short children born SGA, including SRS. Data on metabolic health and long-term safety of GH-treatment in SRS are limited.Objectiv...

Background: Thyrotoxic periodic paralysis (TPP) is a rare clinical manifestation of hyperthyroidism, commonly seen in Asian males. Patients often present with sudden onset muscle weakness associated with severe hypokalemia.Case presentation: A 16-year-old Filipino male presented with acute onset bilateral lower extremities weakness. He woke up at night but was unable to move his legs. He denied any recent viral infections, ingestion of canned food or his...

Background: Congenital combined pituitary hormone deficiency (CPHD) may be associated with pituitary/extra pituitary abnormalities. Well-known causes are mutations in pituitary transcription factor genes. Agenesis of internal carotid artery (ICA) is a rare vascular anomaly that has been associated with CPHD.Case presentation: The patient is a 2-year old male, born at term to non-consanguineous parents, birth wt 3.2 kg, length 47 cm, no gestational or per...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.Clinical case: A 3 months old boy was referred for evalua...

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...

Aim: To identify factors affecting compliance to treatment with recombinant growth hormone (rhGH) in children with growth hormone deficiency (GHD).Study population and Methods: The following data were collected during standard visits in 8 endocrine clinics in Poland: medical history, auxological measurements, laboratory tests and the numbers of empty and full rhGH ampoules dispensed and returned by the patients. The obse...

Background: There is no effective adjuvant therapy for patients with advanced ACT. YAP1, a HIPPO pathway effector, interacts with Wtn\beta-catenin pathway and plays a crucial role in the maintenance of postnatal adrenal cortex and regulates cell proliferation and apoptosis in several tissues. We recently showed that overexpression of YAP1 associates with worse prognosis in our cohort of pediatric ACT (pACT).Aim: To analy...

Background: Small birth size followed by accelerated weight gain in early life is associated with an increased risk for age-associated diseases, such as cardiovascular disease (CVD) in later life. The underlying causes for this are largely unknown. Leukocyte telomere length (LTL) is a marker of biological age and short LTL is associated with increased CVD-risk. Subjects born small for gestational age (SGA) who remain short are treated with growth hormone (GH) to improve adult ...

Background: Subjects born preterm have an increased risk for ageing-associated diseases such as cardiovascular disease (CVD) in later life but the underlying cause is largely unknown. Telomere length (TL) is a usable index for ageing, with shorter TL indicating older biological age. Furthermore, short TL is associated with CVD.Objective and hypotheses: To investigate TL in subjects born preterm compared to term and to assess if TL is associated with risk...