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A Case of Albright’s Hereditary Osteodystrophy-Like Syndrome Complicated by Several Endocrinopathies: Normal Gs Gene and Chromosome 2q37¹

The First Department of Medicine (H.S., T.S., S.O., K.N.), Wakayama University of Medical Science, Wakayama 640, Japan; and Departments of Cellular and Molecular Pharmacology and Medicine (T.I.), and Cardiovascular Research Institute, University of California, San Francisco, California 94143-0450

Address all correspondence and requests for reprints to: Dr. Hidenobu Sakaguchi, The First Department of Medicine, Wakayama University of Medical Science, 27 Nanaban-cho, Wakayama 640, Japan. E-mail: nishihos{at}naxnet.or.jp

We report a sporadic case of Albright’s hereditary osteodystrophy (AHO)-like syndrome with several endocrinopathies. A 37-yr-old woman had an appearance of AHO but did not have renal PTH resistance. Her case was complicated by non-insulin-dependent diabetes mellitus with severe insulin resistance, central diabetes insipidus, and hyposecretion of GH. Most patients with AHO are found in a family of pseudohypoparathyroidism type-Ia and have a heterozygous mutation that inactivates the -subunit of Gs (Gs), the stimulatory regulator of adenylyl cyclase. Some sporadic cases occur in which patients with phenotype similar to AHO have a deletion of chromosome 2q37. However, in this patient, both the Gs gene structure and the biological activity were normal. In addition, chromosome analysis revealed a normal pattern with no visible deletion of chromosome 2q37. Our findings suggest that one or more other factors may be involved in the pathogenesis of AHO-related disease.

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