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Article
Open AccessFinal adult height in long-term growth hormone-treated achondroplasia patients
The objective of this study was to evaluate the gain in final height of achondroplasia (ACH) patients with long-term growth hormone (GH) treatment. We analyzed medical data of 22 adult patients (8 males and 14...
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Article
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature
Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early i...
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Article
Open AccessAn overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene
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Article
Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23
Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system.
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Article
Increased type 3 iodothyronine deiodinase activity in a regrown hepatic hemangioma with consumptive hypothyroidism
Infantile hepatic hemangioma with consumptive hypothyroidism is a rare condition.
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Article
Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
Thyroid hormones are known to be essential for growth, development, and metabolism. Recently, the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter, and MCT8 mutations have been...