Endocrine Abstracts

We present a case of a 56 year-old man diagnosed with systemic mastocytosis by the dermatologists on presentation with classical skin lesions, confirmatory bone marrow biopsy and a tryptase level 105 ug/L (NR 2-14). Further genetic testing confirmed KIT D816V mutation. DEXA bone densitometry at diagnosis revealed marked osteoporosis (Lumbar T score -3.7 (Z -3.5), Femoral Neck T score of -2.0 (Z -1.1). He had no history of low trauma fracture and no relev...

A 68-year-old woman presented with a several month history of nausea, confusion and generalised weakness. In addition, she reported decreased appetite with significant weight loss. She did not report any convulsions, abdominal pain, palpitations, or diarrhoea. Significant past medical history included well-controlled T2DM, hypertension, vitamin D deficiency and GI reflux disease. Importantly, she had no history of renal disease. Relevant medications incl...

We present a case of a 56 year-old man diagnosed with systemic mastocytosis by the dermatologists on presentation with classical skin lesions, confirmatory bone marrow biopsy and a tryptase level 105 ug/L (NR 2-14). Further genetic testing confirmed KIT D816V mutation. DEXA bone densitometry at diagnosis revealed marked osteoporosis (Lumbar T score -3.7 (Z -3.5), Femoral Neck T score of -2.0 (Z -1.1). He had no history of low trauma fracture and no relev...

Background: Infertility affects 1 in 6 couples causing devastating psychological impact. In vitro fertilisation (IVF) treatment can aid couples to conceive, but personalisation of treatment is needed to optimise patient outcomes. Machine learning can aid in the analysis of large complex datasets such as those encountered during IVF treatment. One example is in determining the optimal follicle size on the day of trigger to maximise the number of oocytes collected. Both follicle...

Case: We report a 79-year-old female who was referred to our Endocrine Bone Unit with osteoporosis, which was initially treated with Alendronate (but poorly tolerated due to dyspepsia) followed by annual Zoledronate infusions. Her bone history was significant for a proximal humeral fragility fracture 30-years previously. She was an ex-smoker, had limited dietary calcium intake, and had a brother with osteoporosis. DEXA demonstrated T scores at lumbar spine -1.8, total hip -2.0...

Background: Acromegaly is associated with multiple co-morbidities and increased mortality. Surgery is the first-line intervention and remission of acromegaly can restore normal life-expectancy. Pre-operative somatostatin analogues (SSA) may increase the likelihood of remission in large invasive tumours by causing tumour shrinkage prior to surgery.Aims: To audit the management of acromegaly patients at Imperial College Healthcare NHS Trust (ICHNT) against...

Background: Hyperprolactinaemia accounts for 1 in 7 patients presenting with amenorrhoea. Recent data suggests that prolactin acts at the hypothalamus to reduce GnRH-pulsatility. Conditions in which GnRH-pulsatility is reduced, such as hypothalamic amenorrhoea, favour FSH over LH secretion from the pituitary gland. We examined gonadotrophin secretion in hyperprolactinaemic patients as a surrogate marker of GnRH-pulsatility.Methods: A retrospective analys...

Introduction: Graves’ disease is the commonest cause of hyperthyroidism accounting for 80% of all cases. The first line treatment for Graves’ disease in the UK is medical therapy, most frequently using a ‘dose-titration’ regimen. Currently, there is a lack of guidance to aid clinicians in carrying out optimal dose-titration of carbimazole, resulting in a risk of under- or over-treatment. Thus, we aimed to develop a carbimazole dosing-algorithm for the medic...

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...

Introduction: Diaphoresis, or excessive sweating, is well recognised as a presenting complaint for endocrine disorders such as hyperthyroidism, acromegaly, and phaeochromocytoma. However, diaphoresis is an unusual presenting complaint for Cushing’s syndrome.Case: We present the case of a 35-year-old lady who first presented to health services for symptoms of excessive sweating, and feeling hot most of the time. Whilst initial investigations such as ...