Endocrine Abstracts

Introduction: Pituitary gigantism is a rare but clinically significant paediatric condition. Transphenoidal surgery is the treatment of choice, however medical treatment is often considered as adjuvant therapy.Case report: A 10.6 year old boy presented with tall stature. With hindsight he was noticeably tall from age 5 years. At 10 years his height velocity was 12 cm/year, prompting referral and further investigation. His height was 178.7 cm (+5.79 sds a...

Introduction: The easypod™ Connect Observational Study (ECOS) was a global study with easypod™, an electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). This study aimed to assess adherence and growth outcomes of patients treated with r-hGH via easypod™ in the UK-based ECOS cohort (NCT01263457).Methods: Patients aged 2–18 years, with ≥3 months of easypod™ data after enrolment int...

Introduction: Phytoestrogens are derived from plants that are structurally and functionally similar to oestrogens. Their health benefits are widely extolled, although excessive consumption in children may cause adverse effects.Case 1: A 5.7-year old female presented with a one-month history of breast development and a 3-day history of vaginal bleeding. Prior to presentation, she was taking a health drink containing fennel and sesame seeds, in addition to...

Background: The diagnosis of growth hormone deficiency (GHD) is based on a combination of clinical suspicion supported by growth hormone stimulation testing. IGF-1 and IGFBP-3 are used as supportive markers. Reports over the last decade have examined the performance of IGF-I and IGFBP-3 in the diagnosis of GHD. It is important that each unit evaluates the utility of these markers in the assay used by their laboratory based on relevant normative data.Aim:...

Objectives: The homozygous GHR pseudoexon (6Ψ) mutation leads to aberrant splicing of the GHR gene with clinical and biochemical heterogeneity. We investigated whether the phenotypic variability could be explained by transcript heterogeneity i.e. ratio of abnormal (6Ψ GHR) to normal (WT GHR) transcripts and/or the presence of concurrent defects in other short stature (SS) genes.Methods: 6 Ψ GHR ...

The classical features of Silver-Russell syndrome (SRS) appear to become less pronounced with increasing age. Small-for-gestational-age (SGA) birth is associated with adult metabolic syndrome. SRS is associated with SGA but the adult sequelae and long-term effects of childhood growth hormone (GH) treatment are unclear.Objective: To determine the phenotype and cardio-metabolic profile in older individuals with SRS and compare individuals previously untrea...