Anti-SHOX monoclonal antibody Made to order

The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in patients with idiopathic short stature (ISS) is already documented in the literature as well as the suggestion that additional copies of SHOX are strongly implicated in a condition of tall stature. However, we report the first case of short stature in a male associated with the presence of three copies of the SHOX gene. Through chromosomal analysis, using Multiplex Ligation-dependent Probe Amplification method of SHOX salsa P018B kit and microsatellite analysis, we identify a new interstitial isolated duplication of the SHOX gene and its enhancer caused by a larger duplication of the PAR1 region in a boy with ISS. Consequently, we propose the hypothesis that this chromosome re-arrangement disrupts the regular interaction between the enhancer and promoter, resulting in a transcription block, thus producing a lack of gene activation, causing the clinical feature of short stature.

Objective: The Sleeping Cupid, by Italian painter Caravaggio is a masterpiece painted in 1608. Signs of an endocrine disease are hidden among the shadows of the painting. We decided to conduct a survey among endocrinologists practicing in Italy and asked them if they could identify a specific disease condition in Caravaggio's Sleeping Cupid. Methods: A total of 86 members from 2 Italian endocrine societies completed the survey: 67 from the Society of Endocrinology and 19 from the Society of Paediatric Endocrinology and Diabetology. Results: Altogether 21 (24.4%) endocrinologists agreed the Sleeping Cupid was affected by hypopituitarism, 30 (34.9%) diagnosed rickets, 15 (17.4%) identified a SHOX gene defect, 16 (18.6%) did not agree on any of the suggested hypotheses, and 4 (4.6%) endocrinologists could not identify any disease. The perception looking at a painting can never be entirely similar to that of another person, even though a commonality of features may instead indicate the opposite. That must be the reason why, within a group of Italian endocrinologists who analyzed Caravaggio's Sleeping Cupid, pediatric endocrinologists who see in their clinical practice exclusively children and teenagers) considered rickets as their first choice of diagnosis, whereas the majority of adult endocrinologists suggested hypopituitarism. Conclusion: In conclusion, as Walter Benjamin said "to arrive at the purity of the gaze is not difficult, it is impossible."