ESPE Abstracts

Background: Growth impairment is a known complication of sickle cell disease (SCD). Effects of hydroxyurea (HU) on growth in older children with SCD have never been reported.Objective and hypotheses: This study was done to explore the potential effects of HU on growth parameters of older children with SCD and correlate these changes with clinical improvement.Method: A prospective study was conducted on 97 SCD patients started on HU...

Background: Robot assisted therapy has the potential to provide emotional and educational support to young patients with type 1 diabetes (T1DM).Objective: To investigate the attitudes of children and young people with T1DM and that of their parents towards the concept of utilising a humanoid robot as an assistant in the management of their diabetes.Methods: A humanoid robot programmed to help self-management of T1DM at home was int...

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...

Preterm babies born to non-diabetic mothers (INDM) who experience significant hypoglycemia may have postnatal growth abnormalities. This study evaluated the growth pattern from birth to the age of 2 years of 40 INDM who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 40 INDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/dl (1.1-1.4 mmol/l) th...

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

Background: Mounting evidence points to an association between increased glucocorticoid (GC) action and weight gain. However, the response to GCs is not only determined by GC serum concentrations, but also by individual differences in tissue-specific sensitivity, influenced by genetic and acquired (e.g. disease-related) factors. The extent to which differences in GC sensitivity may influence development of (abdominal) obesity, or vice versa, is poorly understo...

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

Introduction: Pituitary adenoma (PA) in childhood is a rare disease, accounting for 3 % of all intracranial paediatric neoplasm, and between 3 to 6% of all PA. There are only few large studies describing paediatric pituitary adenoma and even fewer studies with long-term outcome.Methods: In this retrospective study, clinical, biochemical and radiological parameters and outcome of paediatric patients (<16 years...