A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles

Takahiro Fukaishi, Isao Minami, Seizaburo Masuda, Yasutaka Miyachi, Kazutaka Tsujimoto, Hajime Izumiyama, Koshi Hashimoto, Masayuki Yoshida, Sayako Takahashi, Kenichi Kashimada, Tomohiro Morio, Kenjiro Kosaki, Yoshiro Maezawa, Koutaro Yokote, Takanobu Yoshimoto, Tetsuya Yamada

Research output: Contribution to journalArticle

Abstract

We herein report a case of a 28-year-old man with generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement. He showed symptoms of generalized lipodystrophy around onset of puberty. His body mass index was 11.9 kg/m2, and he had a short stature, birdlike facies, dental crowding due to micrognathia, partial graying and loss of hair, and a high-pitched voice, all of which are typical features of the progeroid syndrome. Laboratory examinations and abdominal ultrasonography revealed diabetes mellitus, insulin-resistance, dyslipidemia, decreased serum leptin levels (2.2 ng/ mL), elevated serum hepatobiliary enzyme levels and fatty liver. Whole exome sequencing revealed de novo heterozygous LMNA p.T10I mutation, indicating generalized lipodystrophy-associated progeroid syndrome, which is a newly identified subtype of atypical progeroid syndrome characterized by severe metabolic abnormalities. Daily injection of metreleptin [1.2 mg (0.04 mg/kg)/day] was started. Metreleptin treatment significantly improved his diabetes from HbA1c 11.0% to 5.4% in six months. It also elevated serum testosterone levels. Elevated serum testosterone levels persisted even 1 year after the initiation of metreleptin treatment. To the best of our knowledge, this is the first Japanese case report of generalized lipodystrophy-associated progeroid syndrome. Furthermore, we evaluated short and long-term effectiveness of leptin replacement on generalized lipodystrophy by monitoring metabolic and endocrine profiles.

Original languageEnglish
Pages (from-to)211-218
Number of pages8
JournalEndocrine journal
Volume67
Issue number2
DOIs
Publication statusPublished - 2020 Jan 1

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Keywords

  • Generalized lipodystrophy-associated progeroid syndrome
  • LMNA gene
  • Leptin
  • Testosterone

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T., & Yamada, T. (2020). A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocrine journal, 67(2), 211-218. https://doi.org/10.1507/endocrj.EJ19-0226