Endocrine Abstracts

A 35 year old woman presented with severe bone pain, body aches, progressive deformities of chest, skull and swelling of hands for two years. Past history included bilateral total hip replacement for fracture of neck of femur one year back. She was normotensive and normo-glycemic. Her dietary consumption of calcium and vitamin D and sun-exposure was adequate. Investigation revealed haemoglobin 5.4gram per deciliter. Serum calcium and serum iPTH levels were elevated at 3.6milim...

Heparin is being frequently used in most hospitals within the U.K. The use of low molecular weight heparin is increasing also amongst different specialities. The risk of bleeding and thrombocytopaenia with heparin treatment is well recognised. However other side effects of heparin therapy like hyperkalaemia, which can be life threatening due to the high risk of arrhythmias are less commonly perceived.We describe a 59 year old female patient with type 2 d...

Apparent Mineralocorticoid Excess (AME) resulting from liquorice ingestion is rare. Liquorice is still popular, however, and must be considered in the differential diagnosis of patients presenting with hypertension and hypokalaemia.A 62 year-old woman presented with refractory hypertension (blood pressure 200/118 mmHg) and hypokalaemic alkalosis (serum K 2.98 millimoles per litre; bicarbonate 30 millimoles per litre). There was no sign of Cushing's Syndr...

Mrs. P.A., a 75 year old lady, presented to Accident and Emergency with a severe persistent headache of 3 days duration. She was disorientated and drowsy. She has a history of type 2 diabetes, hypertension, hypercholesterolaemia, depression and hypothyroidism. She was a smoker of 20 a day and consumed no alcohol. Her Glasgow Coma Scale was 13/15, her examination was normal. An initial CT head showed a pituitary tumour with haemorrhage. Tests showed an FSH of 14.1 IU/L, LH 2.9 ...

Infection with HIV may be complicated by hypoinsulinaemic hypoglycaemia. We report, for the first time, a case of hyperinsulinaemic hypoglycaemia in a pregnant woman with HIV. A 30 year old patient was diagnosed to have AIDS during the 8th week of her fourth pregnancy and was commenced on standard antiretroviral therapy. At 27 weeks of pregnancy she presented with a grand mal seizure and was found to be hypoglycaemic with venous blood glucose of 1.2mmol/L with inappropriately ...

Medullary thyroid carcinoma (MTC) is hereditary in 25 per cent of cases. This may be in association with Multiple Endocrine Neoplasia (MEN) Type 2 (A and B) or as familial MTC (FMTC) alone. The mutations causing hereditary forms of MTC arise in the RET-proto-oncogene.A 40 yr old asymptomatic gentleman presenting with a mass in his neck. Fine needle aspiration of the mass revealed a probable medullary thyroid carcinoma. Total thyroidectomy and neck dissec...

Unfortunate consequences may result from an incompatible combination of medical illnesses.A 17 year old girl was investigated for recurrent neutropenia, incidentally detected during a bout of tonsillitis. Coincidently she presented to us with generalised malaise, dizziness and vomiting without any other symptoms. Physical examination revealed scar pigmentation. Systemic examination was unremarkable.Biochemistry revealed hyponatraem...

A 30 year old lady attended the Accident and Emergency department (A&E) with vomiting, collapse and confusion several hours after completing her first London Marathon in 5 hours. During the race she kept herself hydrated with water and isotonic fluids and took non-steroidal anti-inflammatory drugs (NSAIDs). On arrival in A&E her Mini Mental Test Score was 0 and Glasgow Coma Scale (GCS) was 11. She was volume replete and haemodynamically stable but confused and restless...

IntroductionDiabetic ketoacidosis (DKA) affects 1-3 percent of pregnancies complicated by diabetes but can result in significant morbidity and mortality for mother and foetus. Euglycaemia in DKA is a recognised but infrequent presentation. It was originally defined as initial blood glucose less than 16.7 millimol per litre and bicarbonate less than 10 millimol per litre.Case ReportA 29-year old female with ty...

The NR0B1 (Nuclear Receptor Subfamily 0, group b, member 1) gene, originally called DAX1, encodes an atypical member of the nuclear receptor family. It is proposed to co-regulate other nuclear receptors, repress transcription of downstream gene targets such as steroidogenic factor 1 and play a role in testis development and spermatogenesis. The gene has two exons of 1,168 and 345bp, separated by a 3,385bp intron. It is expressed in the hypothalamic-pitutary-adrenal/gonadal axi...

A 30year old Afrocarribean man with sarcoidosis presented with unexplained weight gain from 98kg to 112kg over 6 months. He had previously documented bilateral hilar lymphadenopathy, erythema nodosum, arthralgia, a positive gallium scan and a raised serum angiotensin converting enzyme(ACE).He also described hypersomnolence, impaired concentration, decreased libido and intermittent headaches with no other neuro-psychiatric symptoms. He was not on any regu...