P-241: Diabetes associated with familial partial lipodystrophy due to mutation in PPARG: clinical presentation and evolution in adolescents
L M Espinoza Colindres, K L Membreño Lozano, S S Velasquez VelasquezAbstract
Introduction
Partial familial lipodystrophies are rare genetic disorders characterized by selective loss of adipose tissue, severe insulin resistance and metabolic alterations. Mutations in the PPARG gene represent a relevant cause and can manifest themselves in adolescence with diabetes and signs of hyperandrogenism.
Objectives
To describe the clinical presentation, metabolic evolution and genetic confirmation of a case of diabetes associated with familial partial lipodystrophy due to mutation in PPARG.
Methods
Case report of a teenager treated at the Endocrinology Service of the María Hospital, Pediatric Specialties, Honduras. Clinical, biochemical, molecular study and treatment findings are described.
Results
14-year-old female patient with primary amenorrhea, virilization (hirsutism, clitoral hypertrofy) and suggestive phenotype (coarse facies, defined muscle mass). With hyperglycemia (197–177 mg/dl), initial HbA1c of 8.5%, hyperinsulinemia (HOMA-IR 15.7–37.9), dyslipidemia and hepatic steatosis initially treated with metformin. The genetic study confirmed pathogenic heterozygous variant in PPARG, consisting of familial partial lipodystrophy. Management was modified and with continuous glucose monitoring, persistent hyperglycemias were evidenced (average 255 mg/dl). The treatment was modified by combining (insulin, metformin) with lifestyle changes. Metabolic improvement was achieved (HbA1c 7.5%, TIR 90.1%).
Conclusions
The presence of diabetes with severe insulin resistance, hyperandrogenism and characteristic phenotype should alert about familial partial lipodystrophy. Genetic diagnosis allows us to confirm the etiology and guide the management. Multimodal treatment improves glycemic control, although these patients require close monitoring due to their high cardio-metabolic risk.