Endocrine Abstracts

Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner, resulting in decreased tissue sensitivity to thyroid hormone action, leading to high FT4 levels with normal TSH levels. We present a case of thyroid hormone resistance, initially misdiagnosed and treated as hyperthyroidism. An 8 year old girl was referred due to poor appetite, FT4 level was elevated (38.5 pmol/l) with ...

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...

TSH-secreting pituitary adenomas (TSHomas) are rare. Previously, the reported prevalence was one case per million populations although this is probably an underestimate. A recently published study reported a prevalence of TSHomas in Sweden of 2.8/million inhabitants.Methods/design: Observational study conducted in four tertiary referral centres in Ireland. We retrospectively collected data on the prevalence, demographics, hormonal profile, tumour charact...

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...