Endocrine Abstracts

Introduction: Di George’s syndrome is a rare congenital disease that is usually diagnosed in childhood due to its presentation with velo-cardio-facial abnormalities.Case report: A 42-year-old man was incidentally found to be hypocalcaemic (corrected calcium 1.71 mmol/l) during a ‘well-man check’. A subsequent parathyroid hormone (PTH) was inappropriately low at 0.8 pmol/l (reference range 0.5–4.4 pmol/l).He was ...

A 29 year old female presented with a two year history of recurrent numbness and tingling in her hands. Trousseau’s sign was positive. Investigations confirmed hypocalcaemia with serum calcium 1.64 nmol/L (2.10–2.60), phosphate 1.23 nmol/L (0.80–1.55), alkaline phosphatase 82 U/L (35–120). Parathyroid hormone was inappropriately normal at 36 pg/ml (10–65), Vitamin D 78 nmol/L (50–75). Her mother reported a history of hypocalcaemia when she was two...

Introduction: Di George syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart defects, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections), hypoparathyroidism with hypocalcaemia, gastrointestinal problems, delayed psychomotor development, craniofacial abnormalities, tendency to develop seizures and psychiatric disorders.Case report: We present the case of two patients wit...

Polycystic ovary syndrome (PCOS) is the most common endocrine condition affecting women and is associated with hyperinsulinaemia and hyperandrogenism. Obesity is present in at least 30% of cases and plays a vital role in the development and maintenance of PCOS as well as affecting the severity of the clinical and endocrine features. Significant improvements in symptoms of androgen excess and ovulatory function are seen with even a modest weight loss of 5% in women with PCOS. M...

We report the case of a 42-year-old transsexual with Di-George syndrome (DGS) presenting in adulthood with profound hypocalcaemia and personality disorder. The patient had multiple hospital admissions with episodes of deliberate self-harm and recurrent seizures. Routine investigations revealed hypocalcaemia secondary to hypoparathyroidism. The diagnosis of DGS was delayed until six years later. The clue to the underlying condition was the finding of DGS in the patient’s d...

Di George syndrome is, in 93% of cases, the result of spontaneous mutations within the chromosome 22. Environmental factors may affect its occurrence. Phenotypic characteristics of Di George syndrome in children of alcohol-abusing or treated with izotretionin mothers were described. The case of a baby with Di George sndrome born to a woman with symptomatic hyperparathyroidism during her pregnancy is presented.Case report: A 30-year-old woman at 27 weeks ...

Case history: We present the case of a 64 year old gentleman diagnosed with hypoparathyroidism following presentation with acute hypocalcemia post thoracic aneurysm surgery for aortic dissection. The etiology was felt to be a complication of thoracic surgery with possible disruption of blood supply to the parathyroid glands.Deeper investigation at a subsequent review revealed persistent hypocalcaemia predating surgery by over 10 years. This was on the ba...

Thyroglobulin (Tg) is a tumoral marker of differentiated thyroid cancer (DTC). Iterative Tg assays are then mandatory for their follow-up. The maximum imprecision of any Tg measurement should be <5%. However, it is unlikely that current Tg assays can maintain such tight precision over the 6–12 months time period used for monitoring patients with DTC. This precision can be overcome by measuring archived frozen samples from the patient in the same run as the current spe...

The adrenal function of children is investigated similarly to adults’ using at rest (basal) and after testing serum cortisol concentration ((F)). di Iorgi et al. (JCEM 95:2132) showed a good diagnostic accuracy of glucagon testing investigating (F) increase. We retrospectively addressed the relevance of using, in children with short stature tested for GH deficiency, 1/ the normal reference range of our assay for basal (F) and 2/ the threshold provided by di Iorgi et al. o...

This prestigious prize is intended for established workers in the field of basic or clinical neuroendocrinology, and is generously support by Ipsen. This year's recipient is Professor George P Chrousos. The prize will be presented as part of the ECE 2008 opening ceremony where Professor Chrousos will deliver his lecture. Professor Chrousos will also give two other lectures at future ESE scientific meetings. Further information can be found at <a href="http://www...