Endocrine Abstracts

In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature. In our Phase 2 study, 52 XLH children (ages 5–12 years, ≤Tanner 2) were randomized to receive KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum phosphate (Pi) was measured biweekly. KRN23 dose was titrated (maximum 2 mg/kg) targeting age-appropriate serum Pi concentrations.The first 36 subjects had a mean 6.6 years of standard-of-care treatment before...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems, reflecting an underlying effect on neural development. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abn...

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

Introduction: Nutritional rickets is a growing public health concern in at-risk populations despite existing prevention programs and health policies.Aims: To compare infant and childhood vitamin D supplementation policies and strategies across Europe and explore factors influencing adherence.Methods: Representatives of the ESPE bone and growth plate working group and other experts in the field of infant vitamin D supplementation ac...

Background: The 3 day human chorionic gonadotrophin (HCG) test is commonly performed to investigate male undervirilisation. However, the utility of routine HCG testing for male undervirilisation in early childhood and correlation with pubertal progress is unclear.Aims: To review performance of the 3 day HCG test for diagnosis and outcomes.Methods: Standard 3 day HCG test data were analysed in 130 boys of age <3 years with under...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme which initiates the steroidogenic cascade by conversion of cholesterol to pregnenolone. Severe (or classical) deficiency of this enzyme is characterised by disordered sexual differentiation in addition to adrenal and gonadal insufficiency. However partial loss-of-function mutations of CYP11A1 can present as isolated glucocorticoid deficiency (IGD). We describe 16 patients with both novel and know...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

Introduction: Evaluation of XY DSD requires a combination of endocrine and genetic tests. It is unclear whether these two sets of investigations should be performed stepwise or in parallel.Aims: The aim of the study was to document the range of endocrine and genetic abnormalities identified in all XY boys who were investigated at one specialist multidisciplinary service.Methods: Case records were reviewed to collect information fro...