Endocrine Abstracts

The process of learning is an order-dependent process. It can be broken down into functional components: accessing information; assimilating that information as knowledge within a theoretical framework; and then being able to apply that knowledge in an appropriate context. There is nothing new in this. Indeed, the process of learning is part of our very nature. Generations of doctors have learned and taught; learned and taught some more; and learned and taught some more after ...

Background: The initiation of puberty is heralded by increasing gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. During embryonic life the GnRH neuroendocrine network develops thanks to a coordinated migration of neurons from the nasal placode to the forebrain. Our group has previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the population and is associated with adverse h...

Background: Self-limited DP often segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine pathophysiology and its genetic regulation remain unclear. By comparison, many genes have been identified where loss-of-function mutations lead to IHH. Despite likely overlap between the pathophysiology of DP and conditions of GnRH deficiency, few studies have examined the contribution of mutations in IHH genes to the phenotype of DP.<p class="a...

Triple A syndrome (AAAS) is a rare, incurable, homozygous disorder, characterised by tissue-specific degeneration resulting in adrenal failure and neurodisability. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. The inte...

Most SGA infants show rapid catch-up growth in the first year of life such that height is in the normal range by 2 years. However, around 10% fail to catch-up and remain short. This latter group generally presents to specialist growth clinics at school age. Earlier identification would facilitate monitoring of growth and timely intervention.A 3-year, prospective population-based study was undertaken to determine the feasibility of identifying SGA babies ...

Hyperinsulinism in Infancy (HI) is the most common cause of recurrent or persistent hypoglycaemia in early childhood, and manifests as either diffuse abnormalities of pancreatic beta-cell function (Di-HI), or focal adenomatous hyperplasia of beta-cells (Fo-HI). Di-HI is caused by defects in KATP channel genes ABCC8 (SUR1) or KCNJ11 (Kir6.2). Fo-HI arises from somatic loss of maternal heterozygosity resulting in the expression of paternally-derived mutation(s) in SUR1 or Kir6.2...

Background: The BSRTC aimed to standardize thyroid cytopathology reporting while enabling stratification of risk of malignancy (ROM) in thyroid nodules. Observational studies have demonstrated varying ROM for the Bethesda III and IV categories, further affected by the recent exemption of NIFTP. Finally, molecular testing is becoming a reasonable alternative for evaluating ROM in categories III and IV.Objective: To retrospectively establish the use of Bet...

Cow’s milk remains a key source of iodine in the UK. However, there are concerns around the environmental impact of methane emissions from dairy cattle. Initial work suggests that adding certain seaweed species to the diet of cows can reduce enteric methane emissions and may increase the content of certain minerals such as iodine in milk. Little is known about the simultaneous effect of this feeding practice on milk organoleptic characteristics. This study investigates th...

Introduction: Non-alcoholic fatty liver disease (NAFLD) is associated with dysregulated glucocorticoid metabolism. Advanced stages of NAFLD are associated with adverse outcome and current strategies to stage disease severity are still reliant upon liver biopsy. We have previously described changes to enzymatic pathways that regulate cortisol bioavailability; 11β-hydroxysteroid dehydrogenase type-1 (11β-HSD1) regenerates cortisol from inactive cortisone, and A-ring re...

Background: Abnormal pubertal timing affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. However, despite this strong heritability, little is known about the genetic control of human puberty. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine ...