ESPE Abstracts

Background: The children and teenage diabetes team currently care for 270 patients in the region and includes speciality doctors, specialist nurses, dieticians and psychologists.Objective and null hypothesis: To evaluate the strengths and weaknesses of the local care provided by the team, and learn from current patient experience.Method: An anonymous questionnaire was completed by diabetic patients aged 9–20 years when attendi...

A 4.9-year-old girl presented with a 6-month history of excessive body odour and suspected breast development. Family history was significant for presence of Lynch syndrome in both her father and paternal grandmother. At presentation, she was pre-pubertal but tall for her age. Her height was 124 cm (SDS 3.5), and weight was 27.1 kg (SDS 2.69). Her height velocity was accelerated at 15 cm/year and bone age was advanced at 7 years. Investigations revealed an elevated IGF-1 (500 ...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...