Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up.Methods: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. Results:The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years.Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%).Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died For affiliations refer to page 1961

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Congenital leptin deficiency is a rare congenital genetic disease. It is characterized by early-onset, severe morbid obesity. The disease occurs due to mutations in the LEP gene. Obesity is a severe consequence of the disease. It also causes reproductive and obstetric complications. In this study, we present a 26-year-old pregnant case who had been previously diagnosed with congenital leptin deficiency. The pregnancy made it more difficult to regulate the metabolic changes caused by the disease. Problems were held by a multidisciplinary approach, with the contribution of endocrinology and cardiology departments. The patient gave birth to a healthy girl at the 37th week of gestation. Spontaneous pregnancy resulting in a live birth is very uncommon in women with congenital leptin deficiency. The follow-up and treatment approaches during pregnancy and the obstetric outcome are presented with the literature.

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