Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep12 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

A complex phenotype with partial lipodystrophy due to mutations in HIST1H1E and OTOGL genes

Bighetti Leonardo , Romanisio Martina , Mellone Simona , Vurchio Denise , Mollero Edoardo , Daffara Tommaso , Ceccarini Giovanni , Pelosini Caterina , Aimaretti Gianluca , Giordano Mara , Prodam Flavia

Here we report a case of an adult patient (44y/o) followed for type-2 diabetes since he was 15 years, hypercholesterolemia treated with PCSK9 inhibitors and hypertension. At physical examination he presented: progeroid features, prominent forehead, hypertelorism, short palpebral fissures, broad nasal bridge, baldness, and hypotricosis. He was also affected by hearing loss with a jarring voice and lost teeth in early age. He showed developmental delay and ID, mild atrial septal...