Introduction and Objective: Congenital generalized lipodystrophy (CGL) is a rare genetic disorder with a prevalence of approximately 1/2 million people, characterized by the absence of adipose tissue and associated with significant metabolic and hormonal complications that adversely affect fertility and pregnancy outcomes. We aim to report on two distinct successful pregnancies in a patient with CGL, attributed to homozygous mutations in the AGPAT2 gene, which were managed without the intervention of recombinant leptin.
Results: A 34-year-old woman diagnosed with CGL, bearing homozygous AGPAT2 mutations (c.299 G>A and c.493 -1G>C), displayed typical symptoms of the disorder, such as diabetes mellitus from the age of 15, pancreatitis secondary to hypertriglyceridemia at age 25, polycystic ovary syndrome, hepatic steatosis, and signs of muscular pseudohypertrophy, among others. After her diagnosis, she began a stringent low-carbohydrate diet. Her medication regime included solely metformin, 1500mg daily. The first pregnancy occurred naturally at 27y and was managed without complications with dietary measures alone and underwent a vaginal delivery of a 3500g baby. She is currently progressing well through her second pregnancy, expected in April 2024, with no complications thus far and only required insulin therapy in the third trimester to maintain optimal glycemic and lipid profiles.
Conclusions: Given the typically impaired fertility associated with CGL, the occurrence of pregnancies in this population is notably rare. The literature predominantly features cases that necessitate the use of recombinant leptin for metabolic management during pregnancy. However, this case study, suggests that despite the presence of homozygous mutations, CGL can manifest with less severe metabolic disruption, which may have implications for fertility and pregnancy prognosis in affected individuals.
M.G. Teles: None.
