Early-onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.

ABSTRACT:

Background

Diabetes mellitus (DM) in children and adolescents is typically caused by type 1 DM, followed by type 2 DM and maturity-onset diabetes of the young (MODY). We report an unusual Asian Indian family in which three members presented with DM at ages 15, 20, and 30, but not fitting the typical clinical picture of type 1 DM, type 2 DM, or MODY. The primary objective was to elucidate the molecular genetic basis of DM in this family.

Methods

The proband, a 22-year-old man, had short stature, gray hair, osteoporosis, and markedly reduced subcutaneous fat on the body, especially on the extremities along with acanthosis nigricans, and developed myxoid malignant peripheral nerve sheath tumor. Detailed family history revealed multiple loops of consanguinity. The proband underw

SUBMITTER: Hoff FW 

PROVIDER: S-EPMC10767583 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature