Giuseppe Chiumello

TL;DR: It is demonstrated that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute one of the causes of sex reversal in individuals with a normal 46,XY karyotype.

TL;DR: The prevalence of celiac disease in patients with type 1 diabetes is approximately 20 times higher than in the general population, but an additional 40% of patients develop Celiac disease a few years after diabetes onset.

TL;DR: The guidelines of the National Academy of Clinical Biochemistry advocated the use of low bloodspot TSH threshold for newborn screening of congenital hypothyroidism, but the impact generated by the application is largely unknown.

TL;DR: Severe autoimmune enteropathy, which is often associated with increased IgE levels and eosinophilia, is the most prominent early manifestation of IPEX syndrome, Nevertheless, the disease course is variable and somewhat unpredictable, and genetic analysis of FOXP3 should always be performed to ensure an accurate diagnosis, and FoxP3 protein expression analysis should not be the only diagnostic tool for IPEX Syndrome.

TL;DR: Complete surgical removal of craniopharyngioma can be achieved with reasonable safety in more than 70% of patients, and prompt management of residual or recurring disease by radiotherapy, repeat surgery, or a combination of both is usually successful in controlling further tumor growth.