ESPE Abstracts

P1 was referred with short stature aged 2.4 yrs (HtSDS -2.1). Mother’s height 165 cm (+0.5 SD), father’s 185 cm (+1.55 SD). Growth hormone (GH) deficiency was diagnosed following two GH stimulation tests (Peak GH 6.8 ng/ml at 3.2 yrs, 5.17 ng/ml at 3.7 yrs) IGF1 4.6 nmol/l (1.7-27.6) at 2.5 yrs. Pituitary MRI was normal. GH treatment was started at 5 years at HtSD –2.2. Once P1 demonstrated catchup growth (up one centile in 7 months), P1’s older sister ...

Case: MMW was born at 39 weeks by elective caesarian section because of placenta praevia with a birth weight of 2.32kg.She was known to dietetics and medical services because of failure to thrive and short stature (BMI SDS -3.32, Height SDS -2.21). Due to chronic upper airways obstruction, she had a tonsillectomy at aged 2.5 yrs. Following this, appetite and weight improved (BMI SDS -1.3) but abdominal pains prompted blood investigations which revealed positiv...

Background: The causes of most cases in girls with central precocious puberty is idiopathic, and tend to be older compared with neurogenic causes. When confronted with a very young child with sexual precosity, full endocrine work up is necessary and there is no doubt for the need to treat.Case: SG presented at the age of 2.6 years with thelarche and pubarche for one month. As her mother is tall (175cm, 97th centile), she...

Background: Short stature occurs in both Trisomy 21 and Turner syndrome. This unusual case has a de novo mutation of 47,X,del(X)(p22.3),+21 with clinical features of both syndromes. Growth assessment data and investigations was previously discussed in ESPE2016.Case: Following growth assessment due to parental concern that her short stature was too short for either syndrome and a falling height velocity of 3.5 cm/year at 2.8 years, the decision was made t...

Background: Statural overgrowth in SOTOS syndrome is well recognised. However excessive growth away from the usual growth trajectory should prompt assessment for other causes of growth acceleration.Case: TE was referred for a growth assessment at 6.8 years as he appeared to have grown more in the previous year. He was 142.9 cm (Ht SDS +4.32), weight 44.4kg (BMI SDS +2.85). He had no formal genetic diagnosis except that he was clearly dysmorphic with glob...

Background: Short stature occurs in Trisomy 21 but it is relatively slight during childhood. Turner syndrome would contribute significantly to short stature but the combined occurrence of both syndromes, even Turner mosaicism is unusual and could result in significant short stature.Case: SP was referred for a growth assessment at 2.5 years. Her parents were counselled about short stature occurring in both syndromes but were worried that her height was si...

Background: Raised free thyroxine levels in blood results are not unusual in adults. This may be due to protein or drug interference with laboratory assays. However this phenomenon can occur in children depending on the assay method used.Case: An 8-year-old boy with a strong family history of essential hypertension and raised BMI was admitted for fixation of a fracture of his right forearm after falling off a roundabout. Routine blood pressure monitoring...

Background: Assessment in childhood obesity includes looking for obesity syndromes. Dysmorphic features should guide investigations. When clinical signs are subtle, genetic investigations aide diagnosis. A case (S) of progressive childhood obesity is described. He was found to have a pathogenic GNAS mutation which was also present in his mother. Both mother and son had a similar phenotype and did not have hypocalcaemia or PTH resistance described in pseudohypoparathyr...

Background: Diabetes education empowers children and adolescents with diabetes to acquire practical skills in problem-solving and goal-setting to improve self sufficiency. Our aim was to identify variables that have an the impact on diabetes control in terms of psychosocial wellbeing and glycosylated haemoglobin (HbA1c).Objectives and hypotheses: To compare the level of understanding & knowledge of diabetes between three groups of diabetic children. ...

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...