Endocrine Abstracts

We present the case of a 28-year old woman who presented with menstrual irregularity and hirsutism since menarche at age 11. She had been diagnosed with polycystic ovarian syndrome and treated with the oral contraceptive pill for 12 years, despite BMI of 21 kg/m2. Blood pressure was 101/66 mmHg. Baseline electrolytes showed sodium 140 mmol/L, potassium 3.6 mmol/L. Short synachthen test confirmed the biochemical diagnosis of congenital adrenal hyperplasia (CAH) [cort...

Grave’s orbitopathy typically presents with symptoms of proptosis and diplopia. It is an autoimmune condition of retro-orbital tissues. We present a case in which the management of orbitopathy has been complex and required escalation to immunosuppression and consideration of biological agents. A 34-year-old female presented with 2 weeks of diplopia. She had normal visual acuity with no past medical or family history. She never smoked. Thyroid eye disease was diagnosed, sh...

Growth hormone deficiency (GHD) is a licensed and NICE approved indication for growth hormone (GH) treatment but there are no nationally agreed standards for investigation of suspected GHD. Variable practice across the UK could have governance issues and impact on patient experience and equality of access to specialist GH investigation and treatment. Some GH provocation tests carry significant risk and it is therefore essential that these specialist investigations are carried ...

A 46-year-old Asian male attended our endocrine unit in April 2013 following a referral from his GP for the investigation of a neck mass. Serum TSH level was normal and USS revealed a euthyroid multinodular goiter. He mainly complained of increasingly frequent and severe headaches, polydypsia, polyuria, perspiration, and night sweats.On examination, the patient had prognathism, an enlarged and protruding tongue, thickened lips, prominent supraorbital rid...

Introduction: The UK Newborn Screening Programme provide guidelines which facilitate diagnosis and treatment of congenital hypothyroidism (CHT). Prompt treatment is important to ensure normal growth and development. This audit examines initial findings and growth over the first 2 years of life in CHT associated with agenesis, ectopia or dyshormonogenesis of the gland.Methods: Patients were identified from the University Hospital of Wales paediatric endoc...

Background: Confident recognition of atypical genitalia of the newborn and early referral to specialist centres allows for the smooth and successful management of DSD patients. Midwives conduct the majority of newborn infant physical exam (NIPE) yet may not be confident in recognising DSD and talking to families affected.Aim: To develop an e-learning module for examining newborn genitalia, recognising the significance of differences in genital appearance...

Aims: Short synacthen test (SST) is commonly used to diagnose adrenal insufficiency (AI), and with serum ACTH, can help differentiate between primary and secondary AI. The aim of this audit was to evaluate the clinical appropriateness of SST in our endocrine unit.Methods: We looked at all SSTs performed between August 2012 and August 2013. Relevant clinical information was collected from patient notes and database. A SST was considered inappropriate if n...

Background: DSD services are evolving across the UK in response to both family, professional and societal pressures but MDT provision and access to specialist DSD services varies. In November 2017, DSD Clinical Standards were published by the BSPED Clinical Committee with the aim to improve and standardise DSD patient care and these were audited in March 2019. 95% of DSD centres responded with 85% listing psychology as part of their MDT.Aim: 1. To unders...

Case history: A 42 year old female presented with a history of collapse and seizure activity. Her blood glucose was noted to be 3.1 with the paramedics and subsequent hypoglycaemia was demonstrated on several occasions whilst in hospital. She described a family history of insulinoma in her mother. A 72 h fast was performed as an inpatient to look for insulinoma. The nadir serum glucose was 2.0 mmol/l with an inappropriate C-peptide level of 1006 pmol/l and an insulin level of ...

Background: UK South Asians (SA) are at risk of vitamin D deficiency (VDD, defined as 25-OH vitamin D <25 nmol/l) and insufficiency (VDI, 25-OH vitamin D 25–49 nmol/l), which increases the risk of metabolic bone disease. As VDD and VDI are often asymptomatic, many individuals will be unaware of this metabolic abnormality. As there is little information on how to detect VDD/VDI in the community, we wished to investigate if they were identified more effectively using ei...