Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.

ABSTRACT:

Introduction

Lipodystrophy syndromes (LS) represent a clinically and genetically heterogeneous group of disorders of adipose tissue. LS are characterized by a partial or generalized deficiency of adipose tissue and variations in fat distribution throughout the body. Metabolic complications serve as significant determinants of morbidity and mortality in these syndromes.

Case presentation

The patient was assessed for general lipodystrophy and myopathy findings, and a CAVIN1 mutation was identified by next generation sequencing. Our patient exhibited low leptin and vitamin D levels, categorized as metabolic disorders, alongside increased insulin resistance. Additionally, low insulin-like growth factor 1 levels and delayed puberty were noted as hormonal disorders. Osteopo

SUBMITTER: Bilgec N 

PROVIDER: S-EPMC12600033 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature