Pregnancy in a Woman With Congenital Generalized Lipodystrophy

In Brief BACKGROUND: Congenital generalized lipodystrophy is a rare disorder characterized by scant adipose tissue, profound leptin deficiency, and severe insulin resistance, resulting in multiple metabolic derangements, including hyperandrogenism, anovulation, and impaired fecundity. CASE: A young woman with congenital generalized lipodystrophy receiving leptin therapy experienced menarche, conceived spontaneously, and delivered a liveborn male neonate. CONCLUSION: Adipose tissue is important to normal female reproductive function. Leptin in particular appears to play a key role in adipose-mediated regulation of fertility. Leptin replacement in a woman with congenital generalized lipodystrophy established regular gonadotropin secretion, restored ovulation, and ultimately enabled pregnancy, confirming leptin's critical role in reproduction.