Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.

Background: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients with SOX3 duplication with a variable clinical phenotype, including the smallest reported SOX3 duplication.

A 16-year-old boy with emphysematous gastritis and oesophageal candidiasis.

Emphysematous gastritis is a rare and frequently fatal condition caused by invasion of gas-forming bacteria into the gastric wall. There have only been a handful of reported cases in the paediatric population, and none of these have evidence of candidal infection or mucormycosis. Patients typically present with abdominal pain, vomiting, malaena and haematemesis.