Endocrine Abstracts

The abundance of class 1 cytokine receptors for hepatic growth hormone (GH) and long form of prolactin (PRL) receptor peak near to term coincident with the rise in fetal plasma PRL. The extent to which maintenance of high plasma PRL may alter mRNA abundance for the GH or PRL receptors is not known. The present study aimed to determine whether chronic administration of PRL alters the hepatic GH and/or prolactin (PRL) receptor mRNA abundance in livers of 1-week-old lambs.<p ...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to ...

Introduction: In sheep, modest maternal nutrient restriction over the period of rapid placental growth followed by normal feeding to term results in offspring with a larger placenta and increased expression of the glucocorticoid receptor in a range of tissues. The aim of the present study was to determine whether this subsequently alters the relationship between basal cortisol and blood pressure in later life.Methods: Fourteen Welsh Mountai...

Background: Unilateral adrenal haemorrhage is usually asymptomatic and picked up incidentally on CT imaging. However, adrenal haemorrhage can cause flank pain and when bilateral, adrenal insufficiency or adrenal crisis. Biochemical changes include electrolyte imbalances, low platelet count and anaemia. We report a case of unilateral adrenal haemorrhage with devastating outcome.Case: A 45-year-old male smoker was incident...

Introduction: Perrault syndrome (PS), a rare autosomal recessive condition mostly reported in females, is characterized by sensorineural hearing loss (SNHL), ovarian dysgenesis manifesting as primary amenorrhoea (PA), premature ovarian insufficiency (POI) and neurological manifestations but little is known about testicular function in males.Case summary: A 34 year-old man was referred with progressively reduced libido, e...

Background: The pathogenesis of autoimmune Addison’s disease (AAD) remains incompletely understood, but it is thought to be due to interplay between genetic, immune and environmental factors. A month of birth effect, with increased risk amongst those born in autumn and winter months, have been described in autoimmune conditions such as type 1 diabetes and autoimmune thyroid disease.Aim: To investigate month of birth effect in two independent cohorts...

Perturbations in thyroid function are common in older individuals but their significance in the very old is not fully understood. We examined thyroid hormone status (serum TSH, FT4, FT3, rT3) at baseline in a cohort of 643 85-year-olds and followed their mortality and disability outcomes for 9 years. All cause mortality, cardiovascular mortality and disability according to categorical thyroid disease status and baseline thyroid hormone paramete...

AbstractNon-functioning pituitary adenomas (NFPAs) are the most common pituitary tumours, often presenting with chiasmal compression or hypopituitarism. Surgical resection, accompanied by radiotherapy (RTX) in selected cases, is the treatment of choice for compressive tumours. Long-term health consequences of NFPAs and their treatment are unclear. In this retrospective study, we aimed to assess long-term pituitary function, recurrence and mortality in a ...

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...