Endocrine Abstracts

Objective: To describe real-world safety data on growth hormone therapy (GHT) in paediatric patients with Noonan syndrome (NS) who were enrolled in NordiNet® IOS and the ANSWER®Program.Introduction: Patients with NS have a high prevalence of cardiac defects and an increased risk for leukaemia and certain malignancies compared to the general population. Current safety data do not indicate an association of GHT with worsenin...

Introduction: Growth Hormone Insensitivity (GHI) is characterised by a triad of short stature (SS), IGF-1 deficiency and normal/high GH levels. ‘Classical’ GHI due to homozygous exonic GHR mutations results in extreme SS with dysmorphic and metabolic abnormalities. Heterozygous exon 9 GHR mutations are rare and exert dominant negative effects due to impairment of GHR dimerization/downstream signalling associated with a milder GHI phenotype. Only sev...

Introduction: STAT5 proteins are components of the common growth hormone and interleukin-2 family of cytokine signaling pathway which is a critical molecule involved in growth hormone receptor (GHR) signal transduction, mediating the growth-promoting actions of the GHR. In addition to its role in GHR signal transduction, STAT5B is also involved in the immune system as an important mediator of interleukin-2 action and disruption of this signal transduction is responsible for T-...

Introduction: Bartter Syndrome types 3 and 4 (BS3/4) are rare tubulopathies, caused by CLCNKB and BSND mutations, which affect chloride channel function in the loop of Henle and distal convolute. Historically, with late presentation and poor disease control, patients had severe short stature. Multiple case reports have also found associations between BS3/4 and Growth Hormone deficiency (GHD). Our aim was to investigate growth and presence of GHD in a large co...

Background: Central hypothyroidism (CeHT) is uncommon in children. CeHT is often part of multiple pituitary hormone deficiency but can occur in isolation, and may occasionally be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating mutation of IGSF1.Case presentation: A 15-year-old male was referred for pubertal delay, obesity and abnormal TFTs (FT4 (6.5 pmol/l [8...

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. We aimed to review the impact of growth hormone (GH) doses, scoliosis and IGF1 levels on height gain in children with PWS.Methods/design: Retrospective observational study ...

Introduction: Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most commonly associated with sellar/suprasellar tumours and severe traumatic brain injury or haemorrhage. Less frequent causes may be genetic or idiopathic. Exceptional cases may be associated with minor head injury. We present a case of post-concussive head injury with DI, and anterior pituitary hormone deficits.Case: 15 year old malesustained a concussive head injur...

The main-stay management of Beta thalassaemia major is blood transfusion but this carries a risk of endocrinopathy from hemosiderosis in endocrine organs. Iron chelation therapy aims to mitigate this risk. Access to this therapy isn’t available in some healthcare systems. Known Syrian refugee diagnosed with Beta thalassaemia major in infancy referred via the refugee medical services for thalassaemia management. There was previous history of intermittent transfusion suppor...