Endocrine Abstracts

A 74 years old man was referred to endocrine clinic with abnormal TFTs with raised free T4 (39.7 pmol/l; NR: 7.0–17 pmol/l), raised FT3 (7.3 pmol/l; NR: 3.5–6.5 pmol/l) and normal TSH (1.9 mU/ml; NR: 0.35–5.5 mU/ml) which were done on routine testing by his GP. PMH included COPD and B12 deficiency. He had no symptoms suggestive of thyrotoxicosis and was clinically euthyroid. Investigations were arranged to exclude the three possibilities of assay interference, R...

Case history: A 30 years old male Caucasian had his saliva tested on a self-funded commercial DNA testing to identify his ancestral roots. The markers for Y chromosome were found to be absent and further evaluation revealed him to have 46 XX karyotype.This was consistent with the diagnosis of De la Chapelle syndrome or XX male syndrome. Fluorescence in situ hybridization (FISH) studies confirmed the presence of SRY (sex determining region Y) gene which was responsible...

Maturity Onset Diabetes of the Young (MODY) accounts for upto 2% of all patients with diabetes. Hepatocyte Nuclear Factor 1 alpha (HNF1-A) MODY is the most common subtype accounting for 30–70% of all MODY cases. Typically, it presents in young adults below the age of 45, frequently < 25 with autosomal dominant family history of diabetes, absence of autoimmune markers and insulin resistance and c-peptide positivity.DKA is a rare complication of M...

A 60-year-old lady was referred with male pattern hair loss and facial hirsutism of 5–7 years duration. She was otherwise well and had two children in their 30s. She was not taking any medication and reported a normal menstrual cycle prior to menopause at the age of 50.Her androgen profile showed a high testosterone level of 6.1 nmol/l (range <2.5), androstenedione 3.8 nmol/l (0.7–3.8), DHEAS 5.7 μm/l (0.80–4.9), SHBG 33 nmol/l, F...

A 54 years old female with no significant past medical history was referred by her GP with thyrotoxic symptoms which were not improving on Carbimazole 40 mg daily over the last 3 months in spite of good compliance with the drug. Her initial FT4 was 49.0 pmol/l with TSH suppressed to <0.01 and she was started on Carbimazole 20 mg which a month later was increased to 40 mg/day when there was no improvement in her TFTs. Her TFTs at this point showed FT4 ...

A 74 years old man prsented with gradually worsening confusion with associated jerky movements with background of well controlled type 2 Diabetes, CKD-3, IHD and previous duodenal ulcer. His was on Finasteride, Omeprazole, Mirtazapine, Tamsulocin, Metformin, Atorvastatin, Humulin I insulin. He was taking omeprazole for Duodenal ulcer since 1993.On examination he had jerky movements of the arms suggestive of muscles spasms. Res...

A 74 years old man prsented with gradually worsening confusion with associated jerky movements with background of well controlled type 2 Diabetes, CKD-3, IHD and previous duodenal ulcer. His was on Finasteride, Omeprazole, Mirtazapine, Tamsulocin, Metformin, Atorvastatin, Humulin I insulin. He was taking omeprazole for Duodenal ulcer since 1993.On examination he had jerky movements of the arms suggestive of muscles spasms. Res...

A 52 years old man was referred to the renal clinic for persistent proteinurea and leg swelling with suspicion of nephrotic syndrome. He had a history of Hypertension and chronic depression and was taking olanzapine, venlafaxine, Ramipril.He also had diarrhoea of 5–6 stools per day over the last 6 months. He was getting short of breath and had lost weight. On examination he had erythematous rash over the face, limbs and abdomen which he mentioned was exacerbated by stress...

Introduction: Addison’s disease is the commonest cause of primary hypoadrenalism in the western world. Here, we discuss a case of Addison’s with unusual presentation.Case report: A 39-year-old woman with no previous mental health problems was admitted with history of worsening depression over the last 15 months following her divorce. She had low mood and anhedonia in spite of sertraline for more than a year. This was associated with 40 kg weigh...