Endocrine Abstracts

70yrs male was referred to endocrinology due to an abnormal blood test showing hypogonadotropic hypogonadism. Initial investigations were done due to bilateral gynecomastia worsening over 20 years, by the breast team. He did not go through puberty as a child and was given a testosterone injection at the age of 12yrs for a year. This was discontinued due to sexual arousal since then he did not have any further endocrine follow-ups. He had symptoms of tiredness, reduce libido, a...

Case history: A 75-year-old lady presented with sudden central chest discomfort to Emergency Department. The chest pain was preceded by palpitations. She had a background of Hypertension. She was non-smoker and otherwise fit and well. She mentioned receiving a steroid injection one day ago for joint pain. Her B.P on presentation was 226/106. Her physical examination was otherwise normal.Investigations: Her ECG on admission revealed atrial tachycardia and...

Diabetic lipemia, remains a well recognized but rare manifestation of uncontrolled diabetes mellitus. Although prompt diagnosis and insulin treatment have probably reduced the incidence of hyperlipemia in symptomatic diabetes, reports of this poorly understood syndrome continue to appear. 48 year old male presented with a 2 day history of severe epigastric pain, radiating to his back. Associated symptoms included nausea with vomiting. Lethargic, tired and associated headaches....

62 year-old lady with a long history of hypokalaemia, hypertension and a random aldosterone of 786 pmol/l with suppressed renin of <8.0 mU/l at a time when she was taking Nebivolol, perindopril and Felodipine. Her Hypokalaemia improved after addition of Spironolactone and remained above 3.5 mmol/l. Biochemical work up confirmed a diagnosis of Conn’s syndrome and her BP control improved after addition of Aldosterone antagonist as above. Adrenal MRI revealed a 13 mm adr...

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...

Controversy exists as to the best way to determine which thyroid nodules we should have fine needle aspiration (FNA). The lack of consensus in the British and American Thyroid Association guidelines has not helped to clarify this. The use of ultrasound scan (USS) determined U grading versus a composite of nodule size and pre-determined number of suspicious features continues to be debated. We therefore set out to compare the accuracy of U grading with other identified USS feat...

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...

Introduction: Localising the aetiology of Cushing’s syndrome can be challenging, especially when investigations utilised are limited in their sensitivities and specificities. We present a case whereby the reliabilities of laboratory and radiological investigations are tested to their limits.Case Presentation: A 70 year old female presented with a one year history of fatigue, weight gain and headaches. She had proximal myopathy, cheek telangiectasia ...

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 ...