ESPE Abstracts

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...