Endocrine Abstracts

Introduction: Hypoglycemia is a major obstacle to glycemic control in type 1 diabetics. Approximately two episodes of symptomatic hypoglycemia occur weekly in type 1 diabetic and this risk increases with the duration of diabetes and the strict control1. The aim of this study was to identify the most frequent etiologies of hypoglycemia in hospitalized type 1 diabetic patients.Patients and Methods: This is a retrospective descriptive study that ...

Disorders of sexual development are defined as any congenital condition, in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Congenital adrenal hyperplasia is one of the most common etiology of those disorders, whiwh may be responsible for acute adrenal insufficiency in the neonatal period. The objectives of this case report are to underline the interest of the diagnosis and the genetic counseling for this pathology characterized by an autosoma...

Background: Hyponatraemia is the commonest electrolyte abnormality. It carries a mortality rate of above 50% when plasma sodium concentration falls below 115 mmol/L. We present a case of severe hyponatraemia complicating pre-eclampsia in a primiparous woman.Case Report: A 23-year old healthy primigravida was admitted at 34 weeks’ gestation following an episode of reduced foetal movements. She was hypertensive (BP 171/98 m...

Background: Hyponatraemia is the commonest electrolyte abnormality. It carries a mortality rate of above 50% when plasma sodium concentration falls below 115 mmol/L. We present a case of severe hyponatraemia complicating pre-eclampsia in a primiparous woman.Case Report: A 23-year old healthy primigravida was admitted at 34 weeks’ gestation following an episode of reduced foetal movements. She was hypertensive (BP 171/98 m...

It is very rare to have Pituitary metastasis in Renal Cell cancer (RCC). Prevalence of Pituitary metastasis varies from 1-4% in all cancers and about 2.6% in RCC. Most common cancers with pituitary metastasis are breast (33%) and lung (36%). We present a rare case of RCC with pituitary Metastasis presented with severe Hyponatraemia. A 71 years old male with history of renal cell cancer who underwent Right nephrectomy in 2017. He was found to have intrathoracic metastases in 20...

Background: Resistin is a recently discovered adipocyte-secreted hormone that links obesity with insulin resistance and/or metabolic and cardiovascular risk. This study was designed to investigate whether serum resistin concentrations constitute a significant coronary risk factor, with a particular focus on diabetes and one of its microvascular complications; nephropathy.Methodology: Serum resistin was measured in 86 overweight patients with acute corona...

Summary: Simpson Golabi Behmel Syndrome (SGBS) is a rare syndrome characterized clinically by multiple congenital anomalies, pre and postnatal overgrowth, characteristic craniofacial anomalies, macrocephaly, and organomegaly associated with abnormalities of the skeletal system. The spectrum of signs and symptoms associated with SGBS is wide, ranging from very mild to fatal forms, especially in affected men. We report a rare case of a child affected by SGBS type 1, emphasizing ...

Background: Obesity is increasing in prevalence in younger people, including children and adolescents. Bariatric surgery (BS) is well-established and efficacious treatment for morbid obesity in adults. BS is being performed in younger age groups more frequently.Objective: To describe outcomes of BS under the age of 25 in Emirati individuals having follow-up at Imperial College London Diabetes Centre (ICLDC).Methods: Patients recrui...

Limb-girdle muscular dystrophies are a heterogeneous group of disorders regarding both their phenotypes and their underlying genetic causes. One of these defects is limb-girdle muscular dystrophy type 2J (LGMD2J), which has an unknown prevalence. Our aim is to describe clinical features an evolution of a novel case of this rare condition. Our patient is female, aged 29 from a non-consanguine family bearing features of limb-girdle muscular dystrophy. The first signs of this aff...

Krabbe disease, also known as globoid cell leukodystrophy, is an autonomic recessive genetic disorder caused by GALC mutations. GALC gene codes for galactosylceramidase, which is a lysosomal enzyme. This disorder can occur during early childhood, between the ages of 1 and 8 years old (later onset form) or during adulthood; its prevalence is estimated at 1/100 000. Nevertheless, in most cases, this disorder occurs during childhood. With this case report, our a...