A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles
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- Fukaishi Takahiro
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Minami Isao
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Masuda Seizaburo
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Miyachi Yasutaka
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Tsujimoto Kazutaka
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Izumiyama Hajime
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan Center for Medical Welfare and Liaison Services, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Hashimoto Koshi
- Department of Preemptive Medicine and Metabolism, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan Department of Diabetes, Endocrinology and Hematology, Dokkyo Medical University Saitama Medical Center, Koshigaya, Saitama 343-8555, Japan
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- Yoshida Masayuki
- Division of Medical Genetics, Medical Hospital of Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Takahashi Sayako
- Division of Medical Genetics, Medical Hospital of Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Kashimada Kenichi
- Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Morio Tomohiro
- Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Kosaki Kenjiro
- Center for Medical Genetics, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-0016, Japan
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- Maezawa Yoshiro
- Department of Endocrinology, Hematology and Gerontology, Graduate School of Medicine, Chiba University, Chiba, Chiba 260-0856, Japan
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- Yokote Koutaro
- Department of Endocrinology, Hematology and Gerontology, Graduate School of Medicine, Chiba University, Chiba, Chiba 260-0856, Japan
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- Yoshimoto Takanobu
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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- Yamada Tetsuya
- Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan
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Abstract
<p>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.</p>
Journal
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- Endocrine Journal
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Endocrine Journal 67 (2), 211-218, 2020
The Japan Endocrine Society