Endocrine Abstracts

Introduction: A number of different parameters are used to assess adequacy of treatment in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hydrocortisone day curves are established practice in our unit. To determine the value of this procedure, outcomes were monitored using the European Society for Paediatric Endocrinology 2002 guidelines for the management of 21-hydroxylase deficiency.Methods: Two hourly cortisol profiles ...

Introduction: The management of Craniopharyngioma is associated with significant long-term morbidity. We retrospectively assessed the endocrine, hypothalamic and neuro-developmental morbidity (at most recent clinic review) in survivors of Craniopharyngioma diagnosed between 1/01/98 and 31/12/09, and currently being managed at our centre.Methods: We identified 63 patients in our cohort of which 25 were randomly selected for analysis (11 males, 14 females)...

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

Introduction: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. HRD has almost exclusively been reported in children of Middle Eastern origin where the rate of consanguinity is high. The syndrome is characterized by severe short stature, the aetiology of which is unclear. Mutations in tubulin-specific chaperone E (TBCE), a gene encoding a chaperone requ...

Prohormone convertase 1/3 (PC1/3) deficiency is rare, caused by homozygous or compound heterozygous mutations in the PCSK1 gene. PCSK1 encodes a serine protease important in cleavage of several proneuropeptides and prohormones. Despite a variety of known endocrine associations, paediatric diabetes mellitus is rare, described only once before. Previous understanding was that biological activity of elevated proinsulin (<5% of the activity of insulin) confers protection from ...

Introduction: Mutations in GNAS, affecting the alpha subunit of heterotrimeric G proteins, are implicated in several endocrinopathies. We report a patient with features of both receptor activation and inactivation in association with a novel de novo heterozygous somatic mutation.Case report: Asymptomatic hyponatraemia (Na 117-123) was identified in a male neonate, and treated with sodium supplementation and fludrocortisone. Biochemical data were...

Introduction: Post-prandial hyerinsulinaemic hypoglycaemia (PPHH) or dumping is a recognized complication of various gastric surgeries. There are very few paediatric case reports to confirm PPHH post esophageal repair. We here report two cases who presented with dumping syndrome after a variable time period post esophageal atresia repair and response to medications.Case 1: A 6 month old female diagnosed with Wolf-Hirschhorn syndrome, born at 38+3 weeks b...

Introduction: Central hypothyroidism (CeH) is diagnosed when low thyrotropin (TSH) is associated with a free thyroxine (fT4) below the normal range. Jostel proposed a ’fT4-adjusted TSH’ (TSH index: TSHI = log TSH +0.1345 · fT4.), to estimate the degree of pituitary dysfunction (Jostel et al. Clin End 2009).Methods: Retrospective analysis of patients investigated for pituitary hormone deficiencies (n=276; M:F 166:...

Introduction: The UK 100,000 Genomes Project (100KGP) investigated the genetic basis of rare disease. The molecular drivers of most paediatric pituitary disease remains unknown.Methods: Children with genetically unexplained pituitary disorders attending a tertiary paediatric endocrinology centre were recruited to the 100KGP and underwent whole genome sequencing. Parental DNA was obtained where feasible. Virtual gene panels were applied and bioinformatic ...

Efnb2 encodes for the ligand Ephrinb2 that binds to its cognate Eph receptor, with which plays an integral role in angiogenesis, stem cell regulation and tumorigenesis. Using a pituitary-specific Cre-driver (Hesx1Cre), we conditionally deleted Efnb2 from the early stem/progenitor cells (PSCs) of the developing pituitary gland. We found that Efnb2 is expressed in PSCs both during embryogenesis and adulthood, suggesting its...