Abstract

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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