Endocrine Abstracts

A 37-year-old woman presented with a short history of left arm pain. X-ray indicated a lytic lesion of the scapula. Calcium was elevated at 3.25 mmol/l (normal 2.2–2.6) with parathyroid hormone (PTH) 936 pg/ml (5–70). Upon questioning she reported nocturia, polydipsia and dyspepsia. Magnetic resonance imaging revealed brown tumours in the scapula, clavicle and hand. A superior parathyroid adenoma was excised with normalisation of calcium. Bone biopsy of the scapular ...

A 45-year-old man who works as a psychotherapist was referred with an incidental finding of a rudimentary uterus and bilateral pelvic gonads on pelvic computerized tomogram and magnetic resonance imaging. This was performed for investigation of abdominal pain which has since settled. As far as he is aware he was born without complications and developed normally through childhood. He progressed through puberty uneventfully with voice changes by 13 years and shaving by 16 years....

Since the 1990’s, eight survey studies have demonstrated iodine deficiency during pregnancy across the UK and Ireland. Both countries lack an iodine fortification programme, unlike many European countries. Therefore, women must rely on dietary adjustments and supplementation to achieve the iodine intake required in pregnancy. The World Health Organisation (WHO) recommends an increase from 150 to 250 µg/day during pregnancy. Pregnant women in Belfast were recruited to...

Iodine surveys in pregnant women in UK and Ireland have consistently demonstrated iodine deficiency since the 1990s (nine cohorts) but there remains no fortification program. In its absence education and supplementation are key. Knowledge scores have been low across the UK. However, since the last report from NI 10 years ago, the NI antenatal “Pregnancy Book” provided at booking has a new iodine entry. Recently the British Dietetic Association (BDA) have published a ...

Iodine status surveys in pregnant cohorts in the UK and Ireland have demonstrated deficiency since 1990s, but there is no nationwide fortification program unlike many other European countries. Therefore, dietary modification and supplementation are key. Milk/dairy products are the main dietary sources of iodine locally. One previous RCT of milk provision in non-pregnant women in NI reported improved iodine status after 3L/week milk. We recruited 118 women at booking. Each rece...

Waardenburg syndrome type-II is characterised by sensorineural deafness and skin/ hair hypopigmentation due to pathogenic variants in SOX10 gene. SOX10 protein is a transcription factor regulating early neural crest-cell development. Recently SOX10 pathogenic variants have been described in a small number of patients with both Waardenburg and Kallmann Syndrome (hypogonadotropic hypogonadism (HH), anosmia) indicating co-pathogenicity. An 18 year old male presented with delayed ...

Northern Ireland was one of the first participating sites for the UK screening programme for congenital hypothyroidism (CHT) started 40 years ago. This study aimed to explore any changing patterns in incidence over time. Enrolment in the programme has remained high throughout the 40 years (> 98%). The cut-off value for neonatal thyroid stimulating hormone (nTSH) on day 5-8 of life reduced in ~1995 from 10 mU/l to 8 mU/l to improve sensitivity and specificity. There was a s...

Anonymised therapeutic data has been available for all patients in NI across 364 general practices since 2008. The database records age, gender, trusts and postcodes, which allows for spatial deprivation analyses. Patients were categorised in deciles (1-most deprived, 10-least) according to published criteria. We examined carbimazole (CBZ) and propylthiouracil (PTU) prescriptions over 10 years (2010 to 2019). Patients treated definitively with surgery/radioiodine are invariabl...

A 60 year old nurse presented to the emergency department with palpitations, itchy skin, shortness of breath, diarrhoea, insomnia, weight loss and feeling hot /clammy. She felt her symptoms were in keeping with the menopause although she had been amenorrhoeic for six years. Thyroid function tests revealed fT4 73 pmol/land TSH <0.01 mIU/lhaving been normal six months previously. She was started on carbimazole 40 mg/day and was seen urgently in clinic. She reported to feelin...

Case History: A 27 year-old lady, seven weeks gestation presented to ED during her second pregnancy with abdominal pain, vomiting, constipation and hyponatraemia (Na = 114mmol/l). She had attended twice earlier during her pregnancy with presumed hyperemesis gravidarum. Because urinary sodium was elevated at 181mmol/l, dehydration was deemed unlikely and she was initially treated as SIADH with 1.2L fluid restriction and 2.7% 200mls of hypertonic saline. Sertraline was held. Rep...