Endocrine Abstracts

Introduction: The testicular disorder of sexual differentiation (DSD) is a rare clinical condition with a reported incidence of 1:20 000 newborn males. It is characterised by a male phenotype with 46,XX karyotype. There are three clinical phenotypes: normal male phenotype, males with genital ambiguities and males who are true hermaphrodites. SRY positive 46,XX testicular DSD results from the translocation of a Y chromosome segment containing the SRY gene during spermatogenesis...

A 42 year old lady presented to the Endocrinology clinic with a longstanding history of exertional dizziness, increasing in frequency over the preceding two months. She reported marginal symptomatic improvement with the introduction of frequent carbohydrate rich meals. She was asymptomatic in the post-prandial period. She had no associated nausea, confusion, palpitations, diaphoresis, collapse or weight gain. She was on medication (SSRI) for anxiety. Her father and paternal gr...

Introduction: Patients with adrenal insufficiency (AI) lack endogenous cortisol and require oral hydrocortisone. In primary AI (PAI) endogenous aldosterone synthesis is also lost and patients require oral fludrocortisone. Important long-term issues include wearing MedicAlert jewellery (MAJ) and adequacy of steroid replacement including fludrocortisone, assessed by plasma–renin activity (PRA).We identified patients with AI attending our unit and aime...

The recently published Endocrine Society Clinical Practice guideline on phaeochomocytoma and paraganglioma (PPGL) recommends measuring plasma metanephrines (PMets) with patients in the supine position after an overnight fast and using appropriately defined reference intervals.1 Studies have shown higher diagnostic sensitivities using the latter pretesting criteria.2 However, this testing protocol is resource intensive and arguably impractical in routine c...

International best practice guidelines provide well-defined recommendations for the management of differentiated thyroid cancer (DTC) measuring ≤1 cm, >4 cm and for those with defined risk factors. However, the extent of surgery and requirement for radioiodine remnant ablation (RRA) are less clearly defined for tumours 1–4 cm in size. Guidelines recommend a ‘personalised decision making’ approach for this cohort, with therapeutic decisions based on pat...

Background and Aim: Turner’s syndrome (TS) or 45 XO is a condition in which a female is partly or completely missing an X chromosome. TS affects 0.025–0.05% of females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. We aim to evaluate our practice compared to the clinical practice guidelines, which recommends the following: annual BMI, blood pressure, HbA1c, lipid profile, liver function, thyroid functio...

Iodine is a trace element required for thyroid hormone production. Requirements increase in pregnancy, when even mild deficiency may affect offspring neurocognitive development.The gold standard for assessing iodine status is population surveys of urinary iodine concentration (UIC). The WHO also suggests a population prevalence of >3% of TSH values > 5 mIU/L indicates deficiency. A recent UK survey of 700 teenage girls demonstrated ...

Iodine is a trace element required for thyroid hormone production. Requirements increase in pregnancy, when even mild deficiency may affect offspring neurocognitive development.The gold standard for assessing iodine status is population surveys of urinary iodine concentration (UIC). The WHO also suggests a population prevalence of >3% of TSH values > 5 mIU/L indicates deficiency. A recent UK survey of 700 teenage girls demonstrated ...