AUTHOR=Somali Maria , Korakas Emmanouil , Pizirtzidou Eirini , Efstathiadou Zoe A. , Sapranidis Michail , Mouslech Zadalla 

TITLE=Case Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2025.1715799

DOI=10.3389/fendo.2025.1715799

ISSN=1664-2392

ABSTRACT=Lipodystrophy is a rare group of conditions characterized by partial or total absence of adipose tissue in the body. The lipodystrophy is either congenital or acquired and is also classified further to either generalized or partial. Lipodystrophy is associated with severe insulin resistance and metabolic disorders due to ectopic fat deposition. The therapeutic approach of lipodystrophy is limited to preventing the exacerbation of complications associated to metabolic disorders and include low fat diet and exercise in combination with medication for diabetes control and fibrates or statins to control dyslipidemia. Metreleptin is an adjunctive injectable treatment for people with generalized lipodystrophy due to leptin deficiency aiming to improve appetite and metabolic markers. Metreleptin treatment has also beneficial impact on liver and kidney function, the cardiovascular and the reproductive system and fertility. In the current paper we present a rare case of a female patient of reproductive age with congenital generalized lipodystrophy type 1 who received metreleptin treatment for the control of her diabetes and metabolic disorders. After 13 months of treatment with metreleptin the patient conceived spontaneously and delivered a healthy neonate. This rare and educational case indicates that metreleptin plays a key role in the adipose-mediated regulation of fertility.