A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles
| Autor: | Isao Minami, Tomohiro Morio, Takanobu Yoshimoto, Tetsuya Yamada, Koshi Hashimoto, Kazutaka Tsujimoto, Yasutaka Miyachi, Yoshiro Maezawa, Kenjiro Kosaki, Sayako Takahashi, Seizaburo Masuda, Hajime Izumiyama, Takahiro Fukaishi, Kenichi Kashimada, Koutaro Yokote, Masayuki Yoshida |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Blood Glucose Leptin Male medicine.medical_specialty Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Short stature LMNA 03 medical and health sciences Metreleptin chemistry.chemical_compound Progeria 0302 clinical medicine Endocrinology Lipodystrophy Congenital Generalized Internal medicine Diabetes mellitus Diabetes Mellitus medicine Humans Aspartate Aminotransferases Dyslipidemias Glycated Hemoglobin business.industry Hypogonadism Generalized lipodystrophy Fatty liver Alanine Transaminase Lipase Lamin Type A medicine.disease Fatty Liver Treatment Outcome chemistry 030220 oncology & carcinogenesis medicine.symptom business Dyslipidemia |
| Zdroj: | Endocrine Journal. 67:211-218 |
| ISSN: | 1348-4540 0918-8959 |
| DOI: | 10.1507/endocrj.ej19-0226 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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