Endocrine Abstracts

Graves’ orbitopathy or thyroid eye disease (TED) represents the most common extra thyroidal manifestation of Graves’ disease. Smoking and radioactive iodine therapy are the most important modifiable risk factors. Thyrotropin receptor and insulin-like growth factor-1 receptor crosstalk, orbital inflammatory infiltration and activation of orbital fibroblasts lead to perpetuation of orbital inflammation a...

Introduction: Malignancies and hyperparathyroidism account for over 90% of cases of hypercalcaemia. When presenting with suppressed PTH, malignancy is its commonest cause. We present a case of PTH-independent hypercalcaemia of immobilisation responding to bisphosphonate therapy.Case summary: A 57-year-old Caucasian male presented with significant weight loss and severe back pain. He consumed 50 units of alcohol a week, had stopped smoking 20 years earlie...

Background: Sex-steroid feedback regulates gonadotropin (LH and FSH) secretion. Kisspeptin, a novel hypothalamic neuropeptide, stimulates gonadotropin secretion by stimulating GnRH secretion, and has been shown in animal models to play a central role in mediating sex steroid feedback.Hypothesis: As estrogen feedback occurs at both the hypothalamus and the pituitary in women, we hypothesized that the stimulatory effect of kisspeptin-10 would be dependent ...

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 ...

Hemoglobin A1c (HbA1c) is used for the long-term management of patients with diabetes mellitus (DM). Hemoglobin variants other than HbA1c and e-N-lysine-glycated HbA0 may cause analytical interference in determinations of HbA1c. Hemoglobin J is an abnormal hemoglobin, an alpha globin gene variant and present in various geographic locations. Hemoglobin J (depending on its type) has different characteristics and functions. For example hemoglobin J Capetown (α2 92Gln β2...