Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.

Lipodystrophies comprise a large, heterogeneous group of disorders characterized by generalized or partial fat loss, accompanied by metabolic complications, including insulin resistance, which may or may not be associated with diabetes. Inherited lipodystrophies are a rare subgroup of lipodystrophies characterized by diverse systemic manifestations, posing a diagnostic and therapeutic challenge to clinicians. Here, we report two rare cases of lipodystrophy syndromes: mandibular dysplasia with deafness, progeroid features, and lipodystrophy (MDPL) (Online Mendelian Inheritance in Man (OMIM) #615381) and congenital generalized lipodystrophy type 4 (CGL4) (OMIM #613327). The presenting complaints were delayed puberty and young-onset diabetes in the former case and delayed puberty and achalasia cardia in the latter case. The molecular diagnosis was confirmed by whole-exome sequencing.