6941 Congenital Generalized Lipodystrophy - An Undiagnosed Case in an Underserved Border Community

Abstract Disclosure: D. Evans: None. A. Gutierrez: None. S. Echetebu: None. M. Zerah: None. Introduction: Congenital Generalized Lipodystrophy (Berardinelli-Seip Syndrome) is estimated to occur 1-10/10 million people1. Patients may present with specific clinical features and/or hormonal imbalances such as hyperinsulinemia and hypertriglyceridemia. Complications of CGL result in a decreased average life expectancy of 51.2 years2. Here we present a case of a female from a medically underserved city in Mexico who was not diagnosed until the age of 16, three years after immigration to the United States. Case Presentation: The patient lived in Mexico and had little medical care. After she immigrated, she was referred to Pediatric Endocrinology due to an elevated hemoglobin A1c, hypertriglyceridemia, and elevated liver enzymes. At birth and in adolescence, the patient did not resemble any of her five fully biological siblings, had little adipose tissue, and had well-defined musculature. Physical exam findings included generalized absence of adipose tissue and prominent musculature, large hands and feet, acromegaloid features, acanthosis nigricans, hirsutism, and phlebomegaly. Breast development was Tanner Stage IV, and genitalia was Tanner Stage V, without clitoromegaly. Patient is currently being treated by psychiatry for Major Depressive Disorder and suicidal ideation. Results: She was diagnosed with diabetes mellitus due to elevated glucose on OGGT and hypertriglyceridemia. She was then started on a low carbohydrate diet, Metformin, and Atorvastatin. After treatment a significant improvement in labs were observed. Triglyceride levels decreased from 1112 mg/dL to 392 mg/dL(35-150 mg/dL), A1c from 8.5% to 5.8%(<5.8%), AST from 36 U/L to 16 U/L(12-32U/L), and ALT from 51 U/L to 20 U/L(5-32U/L). OGGT levels measured after treatment began were as follows: fasting: 95 mg/dL (70-100mg/dL), 1 hour: 242 mg/dL (130-140 mg/dL), and 2 hours: 229 mg/dL(<155 mg/dL). A liver ultrasound was normal. Genetic testing, Echocardiogram, EKG, and Leptin levels are all pending. Discussion/Conclusion: This case of an adolescent with CGL, who was not diagnosed until 16 years of age, demonstrates not only the health disparities and challenges faced by patients in border communities, but it also demonstrates the lack of knowledge of CGL in healthcare. By presenting this case, we hope to increase awareness of CGL within the medical community at large, and to improve the quality of life of our patients. References: 1. Garg, A. N Engl J Med 2004;350:1220-34 2.Akinci, B. et al., J Clin Endocrinol Metab 88:5433-5437, 2003 Presentation: 6/2/2024