ESPE Abstracts

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

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: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

Background: Pituitary adenomas secreting GH rarely present in childhood. We report the clinical features, management and outcome of the 5 cases referred to a tertiary Paediatric Endocrine/Neurosurgical service over a 20-year period.Patients: **4 Male:1 Female - all aged 15 years at referral. Tanner puberty stages G3-5; B3. Clinical follow-up data range 2 months – 8 years.Clinical features at presentation: Headache, n=...

Background: When a baby presents with atypical genitalia, the most important diagnosis to consider is 21-hydroxylase deficiency (21OHD, CAH, 46,XX). However, primary adrenal insufficiency (PAI) can also occur in 46,XY children with differences in sex development (DSD), although this is less common. Known causes of 46,XY DSD-PAI include high blocks in steroidogenesis (STAR, CYP11A1); steroidogenic enzyme defects (HSD3B2, CYP17A1</...

Background: Daily r-hGH injection has been safely and effectively used in paediatric patients with GHD for more than 30 years. However, little information is available describing the burden and life impacts experienced by paediatric patients related to daily r-hGH injections.Objective: To identify the burden and impacts of a daily r-hGH injection regimen on the lives of paediatric GHD patients.Methods: A retrospective meta-analysis...