Endocrine Abstracts

AKT serine-threonine kinases are critical mediators of both growth and metabolic actions of insulin. AKT2 is believed to exert predominantly metabolic effects, while AKT1 has been more strongly implicated in growth. We have recently reported that the de novo AKT2 p.Glu17Lys mutation produces a sporadic syndrome of severe persistent hypoinsulinaemic hypoglycaemia associated with left-sided hemihypertrophy. Glucose requirements in affected patients are far lower than seen in hyp...

Genetic defects in PCNT, encoding the centrosomal protein pericentrin, cause a rare syndrome of primordial dwarfism, skeletal dysplasia and facial dysmorphism, known as Majewski Osteodysplastic Primordial Dwarfism Type II (MOPDII). We now report that 11 out of 15 patients with PCNT defects had clinical and/or biochemical evidence of severe insulin resistance (IR), many also with severe dyslipidaemia; the remaining four were under 4 years-old. The metabolic profil...

Case history: A previously healthy 39 year-old male presented to his optometrist with visual disturbance. Visual field perimetry confirmed bitemporal hemianopia, prompting referral to endocrinology. On questioning, he reported an increase in hand and shoe size, but no headache or diaphoresis. Examination revealed classical acromegaloid features including prognathism, spatulate hands and prominent orbital margins, as well as marked bilateral macro-orchidism.<p class="abstex...

Acromegaly is a clinical manifestation of excessive peripheral growth hormone (GH) action. Most cases result from pituitary somatotroph adenomas displaying varying degrees of GH immunoreactivity. Occasionally, GH is cosecreted with a second hormone from adenomas containing mixed cell populations (e.g. somatolactotroph tumours). Coexistence of multiple discrete adenomas, identical or distinct in hormone secretion, is infrequent. In very rare cases, acromegaly results from neuro...

GH-secreting pituitary adenomas are by far the commonest cause of acromegalic soft tissue overgrowth. However the differential diagnosis includes pseudoacromegaly in rare patients with severe insulin resistance, with or without lipodystrophy, and some congenital overgrowth syndromes such as Sotos’ syndrome, due to mutations in the NSD1 gene. We now report the case of two siblings, born to non consanguinous, clinically unaffected Europid parents, with childhood over...