ESPE Abstracts

In Ghana, iodine deficiency, which represents the most common cause of preventable brain damage in the world, has been virtually eliminated. As a consequence, congenital hypothyroidism (CH) secondary to dysgenesis or enzymatic defects is now likely to be the most common cause of hypothyroidism in neonates. The prevalence of CH in Ghana is however unknown. Based on data in the African American population, it is thought to be less common that in Caucasians.<p class="abstext"...

Background: Abnormal blood glucose in sick children is known to be common and carries a poor prognosis being associated with increased morbidity and mortality.Aim: To compare the clinical outcome in children admitted to the PEU of KATH with normal and abnormal blood glucose (hypoglycaemia or hyperglycaemia).Method: Prospective cohort study involving 430 children, 215 each with normal and abnormal blood glucose, selected from screen...

We report a male patient born small for gestational age (birth weight 2090 g, -2.97 SDS; birth length 43.5 cm, -3.37 SDS), with dysmorphic features (triangular face, low-set, posteriorly rotated ears, pectus excavatum, large anterior fontanel) who presented with seizures at the age of 4 weeks. The child was treated with antiepileptic drugs (Levetiracetam, Midazolam, Phenobarbital, carbamazepine) for 1 year until a severe hypocalcemia (Calcium 6.4 mg/dl, ionised calcium 0.78 mm...

Background: Children suffering from chronic liver disease (CLD) may develop rickets, impaired bone mineralization and are exposed to an increased risk of osteoporotic fractures. Bisphosphonate (BP) is used in children to increase the bone density and reduce the fracture incidence. Up to date, no study showing the effect of this treatment in children suffering from CLD has been reported.Objective and hypotheses: Evaluate the effect of BPs in children with...

Background: Due to delays in diagnosis of Idiopathic Short Stature (ISS), puberty has often started when Growth Hormone (GH) is initiated.Objective and hypotheses: To compare GH+leuprorelin (GH+L) with GH alone in patients with ISS and at Tanner puberty stage 2 or 3. We hypothesised that co-administration of GH+L for 2–3 years would delay puberty, prolong GH efficacy and increase adult height.Method: A phase 3, randomised, ope...

IMNEPD is a mitochondrial disease caused by homozygous mutations in the PTRH2 gene, a nuclear gene coding for a primary mitochondrial protein. IMNEPD was first described in 2014. So far only 3 other case reports have been published, reporting on a total of 15 patients. We report on two affected siblings of whom the girl developed an antibody negative diabetes at 13 years of age with typical symptoms (polyuria, polydipsia, weight loss of 1,5 kg), and without diabetic k...

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...

Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...

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...