ESPE Abstracts

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...

Background: 11β-hydroxylase deficiency (11βOHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by biallelic mutations in the CYP11B1 gene. Clinical manifestations include cortisol deficiency, ambiguous genitalia in females, and hypertension. The clinical manifestations sometimes similar to those of 21-hydroxylase deficiency, and can cause confusion especially in limited settings. We presented three patients initially diagnose...