Endocrine Abstracts

Pathogenic variants in the SDHx genes are responsible for ~20% of familial Phaeochromocytoma/Paraganglioma (PPGL) tumours. Metastatic disease is lower in SDHD in comparison to SDHA, B and C mutations. Although the genotype-phenotype relationship is not well established it is considered that truncating SDHD pathogenic variants have a higher risk of causing disease in comparison to missense variants. We present two cases of metastatic paraganglioma in patients with heterozygous ...

A 56 years old lady was referred to our endocrine service for further management of levothyroxine replacement. She was diagnosed with Graves’ disease 26 years ago and underwent thyroidectomy as definite treatment. Post-operatively, she was commenced on 100mcg of levothyroxine and continued to have regular follow up with her GP. It was noted that her levothyroxine dose had to be reduced to 50 mcg daily over a period of 10 years due to persistently suppressed TSH levels wit...

A sixty-four year old man presented for investigation of mild hypercalcaemia (2.68 mmol/L) incidentally discovered during preoperative workup for elective removal of a testicular cyst. He had no family history of renal stones. His younger brother had undergone a parathyroidectomy at the age of 60. His father died in a road traffic accident aged 54. His mother was 84 and had no history of endocrine disease. Urine calcium:creatinine excretion ratio was 0.0207, excluding familial...

A 47-year-old female presented to the Emergency department following an episode of loss of consciousness at home that her daughter had identified as due to hypoglycaemia (using her husband’s capillary blood glucose meter 1.1mmol/l) and treated. She reported several episodes of fainting, sweating and generalised weakness over 6 months which improved after eating snacks. There was no previous history of diabetes; she had been diagnosed with Graves’ disease 6 months pre...

A 27-year old Caucasian woman was referred to the Endocrine Bone Clinic after investigations for general malaise revealed hypercalaemia and elevated parathyroid hormone levels. She had no history of constipation, abdominal pain, bone pain, or other related symptoms. She had no history of renal stones or fractures and no change in weight. Her past medical history included asthma and she took a salbutamol inhaler as required. She had no family history of endocrine pathology. Gen...

A 61 year-old woman presented with a two year history of facial hirsutism and frontal balding. She did not report voice change or acne. Menarche was at age 14 with regular menses until a hysterectomy (with ovarian preservation) for menorrhagia aged 29. She had a past medical history of T2DM and gastric bypass surgery. She was not on androgenic medication. Examination revealed clinical hyperandrogenism with androgenic alopecia and hirsutism (FG score 20) but no cliteromegaly. T...

A 33-year-old lady was referred to the endocrinology clinic with mild hyperprolactinaemia on the background of having missed a single period, with a raised testosterone of 4.1 nmol/l (0–2). She had no other medical problems. Her menstrual cycles normalised by the time she attended clinic. She had no galactorrhoea, visual disturbance or features of hyperandrogenism. Her BMI was normal and she was normotensive. Blood tests revealed mild hyperprolactinaemia of 709 nU/l (100&...