ESPE Abstracts

Introduction: De novo and inherited cases of 16p11.2 microdeletion and duplication syndromes have a spectrum of clinical manifestations, with incomplete penetrance and variable expressivity.16p11.2 copy number variants have shared phenotypic features (autism, developmental delay). Mirror phenotypes have also been described: deletions – obesity, hyperphagia, macrocephaly; duplications – underweight, feeding/eating disor...

We report a term male with diazoxide-unresponsive congenital hyperinsulinism (CHI) (spontaneous conception, non-consanguineous, no family history). The patient did not have macroglossia, exomphalos or lateralised overgrowth (cardinal Beckwith-Wiedemann spectrum (BWSp) features) (1). There was no polyhydramnios, macrosomia, facial naevus simplex, ear creases/pits, diastasis recti or nephromegaly/hepatomegaly (suggestive BWSp features) (1).A targeted massi...

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

Background: Approximately one baby in 2000-3000 is born with congenital hypothyroidism (CHT). Newborn screening of CHT is conducted in different countries by the measurement of either thyroid stimulating hormone (TSH) of free thyroxine (FT4) or both. Whereas most Western countries screened CHT by using a blood spot collected on day 3 to 5 of life, some countries' programmes measure umbilical cord blood TSH or FT4 for the screening of CHT. In our maternity ...

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

Introduction: Primary congenital hypothyroidism (PCH), defined as thyroid hormone deficiency, can be viewed as an anatomical, clinical, biochemical and radiological spectrum.Its etiology includes thyroid dysgenesis (85%) with defects in thyroid gland development and thyroid dyshormonogenesis (15%) with inborn error of thyroxine synthesis or release.There is growing evidence that precise characterization of ...

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...