Endocrine Abstracts

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This case-report presents an adolescent British-Pakistani boy with TRMA, who was unexpectedly diagnosed with bilateral severe prol...

Introduction: CLOCK system is a highly conserved, ubiquitous molecular ‘clock’ which creates internal circadian rhythmicity under the influence of light/dark information. CLOCK system is regulated by the coordinated activation/inactivation of several transcription factors, including the CLOCK, the BMAL1 and other essential regulators, such as the Pers, Crys and RORs. The present study aimed to evaluate the circadian rhythm of clock-related genes expressed in patients...

Introduction: Although the protective effects of 1,25(OH)2D3 on the early stages of atheromatosis process have been investigated, data on its influence on factors implicated in plaque vulnerability are limited. During these stages metalloproteinases MMP-2, MMP-9, their inhibitors TIMP-1,TIMP-2, the RANKL-RANK-OPG system and MCP-1 play a critical role. We aimed to investigate the effect of vitamin D on the expression of the above factors on endothelial cel...

Introduction: Glucocorticoids (GCs) are used in the treatment of chronic inflammatory or autoimmune diseases. However, patients are often resistant to the GC effects. Response to GCs is triggered through glucocorticoid receptor (GR). An important regulator of GR activity is the FKBP5. FKBP5 binds to co-chaperones promoting a conformation with lower cortisol affinity. The number of GRs is another determinant of GC sensitivity; GR expression is regulated by the nuclear ...

Introduction: In the presence of atherogenic plaque, estrogens may be potentially harmful. Among the key vessel wall components in the later stages of atherogenic process are endothelial cells (ECs). During the stages of plaque instability/rupture, metalloproteinases (MMP2 and MMP9), their inhibitors (TIMP2 and TIMP1), RANK, RANKL, OPG, MCP1, lysyl oxidase (LOX), PDGF, and ADAMTS4 play critical role. We aimed to investigate i) the effect of oestrogens on the expression of the ...

Beta-HLH transcription factors are involved in the ontogenesis of neural/neuroendocrine cells, and may play a role in the pathogenesis of neuroendocrine tumours. Neurogenin 2 (Ngn2) is expressed by the developing mouse pituitary. After preliminary data indicating its expression in the normal human pituitary, we have studied its phenotypic expression in normal and adenomatous pituitary tissues.Methods: Fifty-two pituitary adenomas (PA) – 23 clinicall...

Duplication of pituitary gland in association with other midline craniofacial anomalies -DPG-plus syndrome - is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which hasn’t been described in previously reported cases. Ou...

Background: Germline AIP mutations confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated pituitary adenomas (FIPA); AIP mutations account for 50% of familial acromegaly. AIP-related PA are GH, PRL-secreting or non-secreting. Little is known about AIP expression in PA. Although the prevalence is low, identifying AIP mutations in apparently sporadic PA is important for studying at-risk relatives. Pre-screening criteria would help select ...

Introduction: Adrenal incidentalomas (AIs) are increasingly being identified due to more frequent use of cross-sectional imaging modalities. Recent studies reported AIs being identified in 7.3% of abdominal CT imaging. Most adrenal incidentalomas are adenomas that may have secretory activity.Case Report: An 80-year-old lady presented to our Emergency department with one week’s history of worsening right eye bulging and discomfort. She was found to h...

Introduction: Systemic lupus erythematosus is a systemic autoimmune disease, which often necessitates the administration of corticosteroids for its treatment. Cushing’s syndrome is a disorder characterized by the endogenous hypersecretion of cortisol.Aim: The aim was to describe the case of a patient who had systemic lupus erythematosus, was on therapy with corticosteroids and developed Cushing’s syndrome.Case description...