Endocrine Abstracts

Case history: A 2 year old Pakistani boy born of consanguineous parents was referred for a dermatological opinion as he had total alopecia. He was born with a full crop of hair, which was shaved at 7 days of age as per religious custom and had not grown back. His motor milestones were delayed such that he started crawling at 14 months and was unable to walk independently. His weight was on the 0.4th centile and his height (72 cm) was far below the 0.4th centile. His anterior f...

This study aimed to compare the prevalence of metabolic syndrome (MetS) and its components in different degrees of obesity. A total of 2309 adults (aged 25–75 years) who were referred to a large university general hospital, divided into four groups according to their body mass index (BMI); 1511 subjects were non-obese (BMI<30 kg/m2); 535 subjects were moderate (30≤BMI<35); 176 subjects were severe (35≤BMI<40) and 87 subjects were very se...

The role of environmental and occupational toxins in the aetiology of unexplained infertility remains to be fully explored. Epidemiological studies have implicated heavy metals, including cadmium as having a pathogenic role with studies demonstrating associations between serum levels, testicular function and gonadotrophin levels in large cohort studies. Cadmium toxicity is associated with a complex spectrum of effects. Whilst the renal complications are well described, putativ...

AimsTo identify the risk of foot complications in patients with diabetes.MethodsThis study was carried out on 140 patients with diabetes mellitus, including Iranian and other ethnic minority group. The study groups were identified from a diabetic clinic (hospital-based) and a diabetes research center. Risk in the study sample was assessed based on International working Group on the Diabetic Foot (IWGDF). An e...

Neuroendocrine tumours (NETs) have an age-adjusted incidence of 1.2-2.1 per 100,000. We have studied 36 such patients with NETs who are being followed up in our multidisciplinary clinic. Of these 36 patients, there are 17 males (median age 71, range 55-88) and 19 females (median age 66, range 36-79). The presenting features were highly variable; only three patients (8.3 percent) presented with the carcinoid syndrome, eight patients (22.2 percent) presented with small bowel obs...

Over a third of women with polycystic ovarian syndrome (PCOS) display glucose intolerance and multiple risk factors for cardiovascular disease, including central obesity. Interleukin-6, a cytokine that is mainly derived from adipose tissue, has recently been implicated as an important link in the development of cardiovascular disease in obesity. We determined the relations between circulating Interleukin-6 levels and anthropometric, metabolic and hormonal parameters in 38 wome...

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to mutations of the dual zinc-finger transcription factor, GATA3. The C-terminal zinc finger (ZF2) is crucial for DNA binding, whilst the N-terminal finger (ZF1) stabilizes the DNA binding by ZF2 and interacts with other multi-type zinc finger proteins, referred to as Friends of GATA (FOG), which modulate GATA3 function. The majority of GATA3 mutations causing HDR ...

We presenting a case of 26 old lady who is known to have Denys-Drash syndrome, epilepsy and bronchial asthma who presented with history of recent significant weight gain, extensive abdominal bruising and significant muscle weakness which she described literally as not able to use her upper limbs to move to help shuffle her bottom in the floor, a manoeuvre that she was able to do before. Patient is on Carbamazepine, sodium valporate, levetiracetam , salbutamol and Pulmicort inh...

Beta-human chorionic gonadotropin (β-hCG) is normally produced by syncytiotrophoblasts of the placenta and may also be secreted by germ cell neoplasms. An increase of serum hCG concentration in a male patient often suggests malignant neoplasms with a trophoblastic element. Common examples include classic seminoma with syncytiotrophoblast-like giant cells, combined germ cell tumour, and choriocarcinoma. Non-gestational choriocarcinomas typically arise from gonadal...

A 54-year-old female presented to the neurologist in December 2017 with neuromuscular right arm weakness, lethargy and fascial swelling. She had a normal MRI head before being referred to the endocrine clinic with a TSH >125 mIU/l (0.27–4.2 mIU/l). Free T4 was 0.3 pmol/l (12.0–22.0) with a free T3 of <0.4 pmol/l (3.1–6.8). The thyroglobulin antibody was 1366 IU/ml (0–115) with a normal thyroid peroxidase level (TPO) 29.7 (0–34). No previous thy...