ESPE Abstracts

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...

Background: Transient hypoparathyroidism is a recognised cause of hypocalcaemia during the neonatal period and difficult to differentiate from permanent forms.Objective and hypotheses: We present the challenges of monitoring and managing neonates with hypocalcaemia and inappropriately low PTH.Method: Cases 1 and 2 had congenital heart disease (CHD) but were FISH negative for 22q11 deletion. Both were treated with supplemental doses...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Background: Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid replacement. In addition to auxological examinations, laboratory measurements of e.g. 17-hydroxyprogesterone and androstenedione in serum are also necessary to assess the required dosage of hydrocortisone. Another possibility for measuring precursor steroids is hair analysis, which has not yet been carried out in children with this issue. The role of so-called 11-ox...

For the safe delivery of Paediatric Diabetes services at DBTH during the COVID pandemic a postal HbA1c service with patients collecting capillary blood samples to send to the laboratory for analysis was proposed. The aim of this pilot study was to assess stability of HbA1c at ambient temperature in capillary whole blood samples collected into Sarstedt Microvette EDTA tubes. Samples were analysed on the day of collection on the TOSOH G11 analyser and then re-assayed daily for u...

Background: Given the absence of a systematic evaluation of general public’ attitudes towards the storage and use of newborn screening (NBS) blood samples for research in China, we firstly conducted this internet-based survey to explore these issues.Methods: We conducted a national-based internet survey with self-designed questionnaire. We mainly studied three categories: 1) the willingness to have their children’s residual NBS samples used for...

Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism...

Background: The fluid milieu along the female reproductive tract has a major role in a complex series of events that follow oocyte ovulation. These include oocyte transport in the fallopian tube, the transport and capacitation of sperm, fertilization, transport of the blastocyst and implantation of the embryo in the uterus. These processes are regulated by the activity of ion channels located on the surface of endometrial epithelia. In our previous studies we showed that epith...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...