ESPE Abstracts

Introduction: 45,X/46,XY mosaicism is rare difference/disorder of sex development(DSD) with an incidence of 1.7 per 10,000 newborns. Children with this type of DSD have varying phenotype of internal and external genitalia/ gonads, Turner-like features and increased risk of gonadal malignancy posing great clinical challenge.Case presentation: A 13-year-old girl was referred for primary amenorrhea. She had been investigate...

Background: Type 1 diabetes (T1D) being a chronic disease is likely to affect growth in children. Bone age helps in assessing the growth of child in relation to their skeletal maturity. Skeletal maturity is delayed in chronic systemic illness.Objective: To study growth in relation to bone age and chronological age in children with T1D.Methods: Study design: Prospective observationa...

Introduction: Poorly controlled type 1 diabetes affects the hypothalamic pituitary axis and is likely to have a negative impact on spermatogenesis and result in infertility. Further, a chronic complication of diabetes may also be angiopathy of testicular vessels. Thus, at our center for children with diabetes, testicular ultrasound evaluation is performed on adolescent boys with duration of diabetes> 2 years.Objective</strong...

Background: Diabetic keto acidosis is a complex metabolic state of hyperglycaemia, ketosis, and acidosis. Integrated care pathway for the management of DKA was introduced in 2007. At our hospital we use potassium infusion prepared by pharmacy that allows us to alter the rate of infusion for variable potassium delivery.Objective and hypotheses: To check the adherence to integrated care pathway. To identify whether alteration of the rate of potassium infus...

Introduction: GATA6 is a gene that encodes a zinc transcription factor with a key role in the development of several organ systems, as evidenced by the many congenital malformations that have been associated with its mutation. GATA6 plays a role in gut, lung, pituitary, and heart development, with broad expression in developing heart tissue and close link with pancreatic agenesis/hypoplasia. Most cases present with neonatal Diabetes, but a small proportion dev...

Introduction: Brain-lung-thyroid syndrome (BLTS) is a rare autosomal dominant or de novo condition that occurs in early childhood, associated with mutations of the NKX2-1 (Thyroid transcription factor 1) gene present in chromosome 14q13. This protein plays a critical role during organogenesis of basal ganglia, lungs, including surfactant production and homeostasis, and thyroid. The clinical spectrum varies from the complete triad of brain-lung-thyroid...

A girl, who was born to non-consanguineous Afghan parents, was detected with high TSH on newborn blood spot screening. Her venous blood results had elevated TSH level (31.31mU/L), normal free T4 level (10.2pmol/L) and normal thyroglobulin. Isotope scan showed normal uptake and anatomically normal position of thyroid. L-thyroxin treatment was commenced soon. Since early life she had recurrent respiratory distress and recurrent chest infections needing prolonged oxygen therapy. ...

Background: Neonatal Graves’ disease (NGD) occurs in 1–2% pregnancies with maternal Graves’ disease. Thyroid auto-antibodies can persist in the maternal circulation even 10 years after thyroidectomy and can lead to NGD in the absence of maternal thyrotoxicosis. Both maternal stimulating autoantibodies and maternal thyroxine can cross the placenta, and have been implicated in neonatal craniosynostosis.Objective and hypotheses: We report a c...

Background: Hypernatraemia in a neonate can be common, and is usually due to high rates of insensible water loss and high urine output and subsequent dehydration. This is commonly resolved with supplementation of feeds.Case presentation: We present a preterm baby born at 35 weeks gestation who was born in good condition, did not require ventilation or intensive care support. The only support required was for feeding and thermoregulation. In the second we...

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...