Endocrine Abstracts

Case history: A 73-year-old female with a background of hypertension presented to the acute physicians with a 4 month history of progressive headaches. The headaches did not have any ‘red flag’ features. A non-contrast CT scan revealed an intrasellar lesion. She was referred to endocrinology for further management. Her history did not suggest hypopituitarism, Cushing syndrome or acromegaly. There were no visual field defects and her eye movements were normal.<p c...

A 34-year-old was referred for a second opinion regarding his incidental mild hypercalcemia ranging between 2.56 mmol/l and 2.88 mmol/l, with a corresponding PTH ranging between of 3.3 pmol/l and 6.8 pmol/l (laboratory reference range 1.3-9.3 pmol/l). He did not have a history of renal calculi or fractures. He reported chronic recurrent diarrhoea, weight loss, low mood and chronic headache. There was no known family history of calcium disorders. His examination did not reveal ...

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...

Section 1: Case history: A 69-year-old female with a past history of treated hypertension and Graves’ disease presented to the emergency department with a two-day history of headaches, vomiting, confusion and difficulty swallowing following a recent holiday in Spain. She had clinical meningism and a diagnosis of meningitis was made.Section 2: Investigations: After an initial CT scan of her head was reported as unremarkable, a lumbar puncture was per...

Case history: A 44 year old black African woman was referred to the endocrinology clinic for investigation of abnormal thyroid function tests. She had initially presented with palpitations and sweats. She had no significant past medical history and was not taking any prescribed medications or over the counter preparations. On examination, she was clinically euthyroid and did not have any abnormal findings of note.Investigations: Biochemical investigation...

A 64-year-old woman presented acutely with dry cough, difficulty in eating, diarrhoea and weight loss. Her past medical history included cervical carcinoma in situ treated with laser therapy. She was found to be hypercalcaemic, with a corrected calcium of 2.84 mmol/l. During admission, the calcium ranged between 2.8-3.87 mmol/l. The PTH ranged between 0.2-0.4 pmol/l (1.3-9.3 pmol/l). She had raised inflammatory markers and deranged liver function tests. On review, she...

Case history: A 28-year-old female was investigated for hypocalcaemia. Her calcium level was checked because her mother was found to be hypocalcaemic post thyroidectomy for recurrence of Graves disease. Further detailed history taking revealed that the patient’s grandmother often complained of hand cramps on kneading dough. The patient’s aunt was believed to have a parathyroid disorder; no further details were available. On further investigation, it was apparent that...

Glial-cell missing b (GCMB) is a parathyroid-specific gene whose loss results in parathyroid agenesis while haploinsufficiency of GATA3, which belongs to a family (GATA1-6) of dual zinc-finger transcription factors causes the hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome. We investigated the possibility that GATA3 regulates GCMB expression. Our bioinformatics analysis revealed 5 putative GATA3 binding sites in the 1.3 kb region upstream of exon 1 of GCMB...

Mutations leading to haploinsufficiency of the dual zinc finger transcription factor GATA3 result in the hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome which is an autosomal dominant disorder. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extracted. GATA3 specific primers were used for PCR amplif...

The Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations in the dual zinc-finger transcription factor GATA-3. Gata3 heterozygous (+/−) knockout mice develop deafness, while Gata3 homozygous (−/−) mice, which are embryonically lethal at 11.5 to 12.5 days post-coitum (dpc), develop renal hypoplasia. The parathyroids have not been studied, and we therefore investigated these mice for ...