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: 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...

Summary Answer: Most primordial/primary oocytes were found to have a 46,XX karyotype. Chromosome patterns of the ovarian cells were different from that observed in other tissues.Background: TS is a chromosomal condition associated with partial or complete absence of one of the two X-chromosomes. Females with TS have a limited reproductive lifespan due to an accelerated loss of germ cells. It has been hypothesized that vi...

Background: Characterization of testicular adrenal rest tumours (TART) are one of the major long-term complications in congenital adrenal hyperplasia (CAH) patients. Although several adrenal-like properties have been assigned to these benign lesions, the exact etiology has not been established yet.Objective and Hypotheses: The aim of this study was to analyze several (steroidogenic) characteristics of TART tissue which may be classified as adrenal cortex...

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

Introduction: Dumping Syndrome (DS) has been recognized as a major complication of Nissen fundoplication in young children. Althougth other causes have been recognized. We describe a children with esophageal atresia who presented with late DS caused by a surgical complication, Dumping and Horner syndrome were diagnosticated after his surgery.Case description: A male newborn with prenatal diagnosis of right Aortic Arch was born by vaginal delivery, radiol...

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: 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...