Endocrine Abstracts

Background: Osteogenesis Imperfecta (OI) is commonly defined as ‘brittle bones’ disease, but there are also more characteristics like blue sclerae, hearing loss, dental problems, ligamentous laxity and a short stature. Easy bruising is also a very common feature and there are multiple case reports on haemorrhagic events in OI. Larger population studies on bleeding tendency in OI are very sparse, while other connective tissue disorders with easy bruising have much mor...

Introduction: Adrenal oncocytomas are rare and usually present as incidentally detected masses. The aim of this study is to evaluate the clinical characteristics of a series of patients with adrenal oncocytoma.Material and Methods: we retrospectively collated all patients admitted to Bologhine Hospital between 2010 and 2020 for adrenal masses and who underwent surgery and a diagnosis of adrenal oncocytoma at the anathomo-pathological study (n=07...

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...

IntroductionCushing’s disease described in 1973 by Harvey Cushing is the most frequent cause of endogenous hypercorticism in adults in 80-85% of cases of Cushing’s syndromes, it is secondary to a pituitary microadenoma most often, its treatment is first-line neurosurgical.Aim of the studyTo evaluate the results of the short and medium term therapeutic management of Cushing’s disease and to try ...

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...

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...

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...