Endocrine Abstracts

Background: Bardet-Biedl syndrome (BBS) is a rare genetic condition characterised by ciliary protein dysfunction leading to multi-organ damage. Patients with BBS can suffer from hyperphagia and severe obesity from childhood and associated weight-related comorbid diseases such as type 2 diabetes and hypertension. However, the optimal weight management strategy and response to weight loss pharmacotherapy is unknown. Case presentation: We present a case of ...

Pheochromocytoma crises are uncommon but have high mortality. We describe herein a case where multidisciplinary team management was crucial in safely carrying the patient through such a crisis. The patient was a 63 year old lady with a background of neurofibromatosis type 1 (NF-1), and previous renal artery stenosis bypass surgery. She was admitted via A&E with increasingly frequent episodes of sweating, headache, dyspnoea and palpitations. Her troponin was raised at admis...

Introduction: Causes of Primary Congenital Hypogonadism in Males are Leydig cell Agenesis, Cryptorchidism, Chromosome abnormalities (e.g. Klinefelter syndrome, SRY positive 46 XX etc), Enzyme defects include 5α-reductase deficiency. Acquired Primary Hypogonadism includes Testicular torsion, Orchidectomy, Chemotherapy/Radiation toxicity, Orchitis, CKD, Cirrhosis, Sickle cell disease, etc. SRY (SEX determining region Y) is regulatory gene located on Y chromosome and is resp...

Graves’ disease is one of the reversible causes of pulmonary hypertension (PAH). The association was first reported in 1980. Studies have suggested an elevated pulmonary artery systolic pressure in about 36% of patients with Graves’ disease by Doppler echocardiography. We report a case of Graves disease associated with pulmonary hypertension in a young female.Case report: A 41 year old female presented with history of worsening breathless and p...

Case Presentation: 37-year-old woman of South Asian origin was referred from retinopathy screening to our diabetes clinic for evaluation of an unusual finding during her retinal screen. Her retinal blood vessels appeared white in contrast to normal pink to red colour. She was recently diagnosed with type 2 diabetes and with type 1 hyperlipidaemia (T1 HPLA) confirmed by genotype for more than 10 years for which she had suboptimal control with multiple hospitalisations with recu...

Multiple parathyroid tumors causing hyperparathyroidism are the most common manifestation of multiple endocrine neoplasia type 1 (MEN1), displaying almost 100 percent penetrance by age 40–50 years. In most cases, it is the initial manifestation of MEN1.We report a case of young lady presented to hospital with diarrhoea and vomiting and diagnosed to have multiple peptic ulcers with severe oesophagitis. Her other biochemistry was consistent with prima...

Introduction: It is currently unclear how hyperthyroidism and its treatment impact on the weight trajectory of an individual. Anticipated weight gain with the treatment of hyperthyroidism is one of the main concerns of patients.Methods: We prospectively examined the BMI changes that occurred with hyperthyroidism and its therapy and sought risk factors for treatment-related weight gain. An established institutional protocol for the management of hyperthyr...

A 48 year-old lady was referred to Endocrinology clinic in November 2016 with symptoms of tiredness and lethargy for two months. Routine bloods were unremarkable, apart from an incidental finding of raised Vitamin D:258 nmol/l(NR: 50–150). She had depression and was otherwise fit & well. She was on Citalopram and combined oral contraceptive pill (Microgynon). She denied any excessive sun exposure. She didn’t drink any milk, only drank orange juice. She took multi...

An 88 year-old male was referred to Endocrine Clinic with abnormal thyroid function test (TFT); free T4:fT4: 36.9pmol/L (NR:11-23) and a normal TSH:2.51mU/L (NR:0.35-5). Atrial Fibrilation was diagnosed recently and was on Apixiban and Bisoprolol. He had history of prostate cancer, hypertension, oesophagitis, cervical spondylosis, splenectomy and CKD3. He felt well apart from slight heartburn. He was a retired motor engineer. He had no family history of thyroid disease and nev...

Introduction: Bariatric surgery is now a common surgical procedure for weight management recommended by NICE. Complications such as dumping syndrome, micronutrient deficiencies and cholelithiasis are well documented in the literature. Here we discuss the lesser reported complication of adrenal insufficiency seen in three patients following roux-en-y gastric bypass surgery for morbid obesity.Case reports: Three patients were seen in the outpatient clinic ...