Endocrine Abstracts

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence or underdevelopment of the uterus and upper two thirds of the vagina in females with karyotype XX, alongside normal external genitalia. The prevalence is 1 in 4000 to 5000. It can be divided into two major categories. Type 1 occurs in isolation whilst type 2 involves other organ systems, particularly the renal, vertebral, auditory and cardiac systems. Whilst sporadic i...

Background: Neanderthals split from an ancestral human population ~500,000 years ago and lived in Eurasia until 40,000 years ago. Early modern humans emerged in Africa ~350,000 years ago migrating into Eurasia 50,000 years ago. Interbreeding occurred between early modern humans and Neanderthals leading to the introduction of Neanderthal DNA into the early human population, a process termed introgression. In modern Eurasian populations around 2-4% of DNA is of Neanderthal origi...

Background: Recombinant human growth hormone (r-hGH) is the primary therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). There is a high cost associated with treatment and existing methods to predict response (and hence alter management) can only account for 40–60% of the variance.Methods: GHD (n=71) and TS patients (n=43) were recruited as part of a study (PREDICT) on the lo...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

Background: Infants born small for gestational age (SGA) usually show catch-up growth during the first few years of post-natal life. However, some infants remain small and little is known about the factors governing their growth failure. GH and IGF1 receptor mutations only account for a minority of cases. We have now initiated an in vitro assessment of signalling molecules downstream of these receptors and evaluation of cell growth characteristics.<p class="abstext"...

Background: Infants born small for gestational age (SGA) usually show catch up growth within the first few years of life. However in the UK ~1500 SGA children each year remain small, with no clear endocrine cause with rare genetic syndromes accounting for only a minority of cases. In order to define growth factor activation in these children we have initiated an assessment of cell growth and signalling in response to GH and IGF1 in fibroblast cell lines....

Introduction: Patients with acromegaly are often left with long-term sequelae, among which arthropathy is the most common. Studies have shown impaired quality of life (QoL) in patients with acromegaly, even after long-term remission. Arthropathy is a negative predictive factor of QoL, due to its impact on physical symptoms and functioning.Patients/Methods: To characterise further the extent of the acromegalic arthop...

Introduction: Patients with acromegaly are often left with long-term sequelae, among which arthropathy is the most common. Studies have shown impaired quality of life (QoL) in patients with acromegaly, even after long-term remission. Arthropathy is a negative predictive factor of QoL, due to its impact on physical symptoms and functioning.Patients/Methods: To characterise further the extent of the acromegalic arthop...

Background: GH deficiency (GHD) has a spectrum of severity as characterised by GH stimulation tests; the cut-off level for GHD has been a long standing contentious issue. An independent biological correlate of severity would be valuable.Objectives: To identify patterns of gene expression (GE) that correlate with severity in GHD.Methods: Pre-pubertal children with GHD (n=72) were enrolled from the PREDICT study (NCT00256126...

Introduction: In August 2015, a revision of the BSPED-recommended guideline for the management of diabetic ketoacidosis (DKA) was published. A key difference from the previous guideline was a reduction in maintenance fluid rates, with the aim of reducing the incidence of cerebral oedema. Since implementation of these national guidelines, there have been reports within regional networks of an increased incidence in mild acute renal impairment and hypokalaemia. This retrospectiv...