Endocrine Abstracts

Introduction: Hydrocortisone is the main treatment for congenital adrenal hyperplasia (CAH) in children. The optimal biochemical monitoring and replacement regimen of these children continues to be debated. We explored variations in blood spot 17α-hydroxyprogesterone (17-OHP) levels.Methods: Single centre retrospective cross-sectional study of children with 21-hydroxylase deficiency aged <18 years. Patients treated with hydrocortisone who had dr...

Context: Primary aldosteronism (PA) accounts for 5–10% of all hypertension and 20–25% of refractory cases. Diagnosis is important as PA is associated with increased morbidity and mortality compared with ‘essential’ hypertension, and up to 50% of patients may benefit from unilateral adrenalectomy. Screening requires measurement of plasma renin activity (PRA) or concentration (PRC), and plasma aldosterone concentration (PAC), to yield an aldosterone:renin rat...

Context: Primary aldosteronism (PA) accounts for 5–10% of all hypertension and 20–25% of refractory cases. Diagnosis is important as PA is associated with increased morbidity and mortality compared with ‘essential’ hypertension, and up to 50% of patients may benefit from unilateral adrenalectomy. Screening requires measurement of plasma renin activity (PRA) or concentration (PRC), and plasma aldosterone concentration (PAC), to yield an aldosterone:renin rat...

Background: The treatment of Resistance to Thyroid Hormone beta (RTHb) is challenging because no therapy restores the euthyroid state in all tissues. Triac (triiodothyroacetic acid), a centrally-acting thyroid hormone analogue that preferentially activates thyroid hormone receptor beta, is reported to be beneficial in case reports or small case series.Methods: We have treated a cohort of adult RTHb patients with hyperthyroid symptoms with Triac for upto ...

Case history: A previously healthy 39 year-old male presented to his optometrist with visual disturbance. Visual field perimetry confirmed bitemporal hemianopia, prompting referral to endocrinology. On questioning, he reported an increase in hand and shoe size, but no headache or diaphoresis. Examination revealed classical acromegaloid features including prognathism, spatulate hands and prominent orbital margins, as well as marked bilateral macro-orchidism.<p class="abstex...

Acromegaly is a clinical manifestation of excessive peripheral growth hormone (GH) action. Most cases result from pituitary somatotroph adenomas displaying varying degrees of GH immunoreactivity. Occasionally, GH is cosecreted with a second hormone from adenomas containing mixed cell populations (e.g. somatolactotroph tumours). Coexistence of multiple discrete adenomas, identical or distinct in hormone secretion, is infrequent. In very rare cases, acromegaly results from neuro...

Background: The treatment of Resistance to Thyroid Hormone beta (RTHbeta) is challenging because no therapy restores the euthyroid state in all tissues. Triac (triiodothyroacetic acid), a centrally-acting thyroid hormone analogue that preferentially activates thyroid hormone receptor beta, is reported to be beneficial in case reports or small case series. Methods: We have treated a cohort of adult RTHbeta patients, all with heterozygous mutations in ...

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...

Introduction: Hyponatraemia is the commonest electrolyte disturbance, but is not common in young people. Here, we describe a female subject, with recurrent unexplained symptomatic hyponatraemia in whom we considered the possibility of an activating mutation in the arginine vasopressin receptor type 2 (AVPR2) as a rare cause of Syndrome of Inappropriate Anti-Diuresis (SIAD).Case: A 39 year old woman had a history of unexplained hyponatraemia (serum sodium...