ESPE Abstracts

Background: Thyroid hormones are essential in the regulation of foetal and post-natal neurodevelopment. Despite early diagnosis and treatment of congenital hypothyroidism (CH) difficulties with language, hearing, memory and motor function persist for some children. However, comprehensive data about hearing, language and communication function in children with CH are not widely available.Objective and hypotheses: To evaluate hearing, language and communic...

Introduction: There is still controversy for priming with sex steroid before GH testing.Objective and hypotheses: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (HtSDS −2). They were divided randomly into two groups. Children in group 1 (n=50) were primed with premarin in girls and testosterone in boys and those in group 2 were not primed (n=42). All children were tested using stand...

Background: Cystic fibrosis (CF) is the most common genetic sever disease in Caucasian populations. It is crucial to identify patients with CF who are at increased risk of acquiring CF-related diabetes (CFRD).Objective: To identify potential demographic, clinical, and laboratory predictors of CFRD in patients with CF.Method: The study group included patients more than 10 years of age with CF and pancreatic insufficiency who attende...

Background: Oral glucose tolerance test (OGTT) is the screening test of choice for Cystic Fibrosis Related Diabetes (CFRD). HbA1C is considered unreliable in diagnosing CFRD because of increased cell turn over in children and adolescents with Cystic Fibrosis (CF).Objective: To determine the validity of HbA1C as a predictive tool for future abnormal OGTT in CF.Material & Methods: Data were colle...

Introduction: In a large series, approximately 65% of boys with delayed puberty have constitutional delay in growth and puberty (CDGP). We report an adolescent male who presented with delayed puberty and managed as presumed CDGP. Unexpected pubertal progression while receiving treatment made us question the diagnosis of CDGP.Case-report: A 15-year-old African adolescent male presented with delayed growth and puberty. He ...

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

Background: Immunoassays are subjected to a number of interferences giving abnormal results which may lead to unnecessary investigations and treatment. We present clinical cases in which biotin treatment could be involved in abnormal results of thyroid function tests (TFTs) obtained by immunoassays based on biotinylated antibodies/analogs.Objective and hypotheses: Three infants were admitted to intensive care unit (ICU) during 2015, in Edmond and Lilly S...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

Background: Fertility Preservation (FP) in children and adolescents poses unique challenges as efficacy is unproven.Objective and hypotheses: To describe characteristics and evidence for potential fertility in ovarian and testicular tissue cryopreservation specimens (OTCP and TTCP respectively) taken from paediatric and adolescent patients, stratified by age, and prior chemotherapy.Method: Retrospective review of gonadal biopsies a...