A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37.

Abstract

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 alpha-subunit of Gs (Gs alpha), 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 alpha 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.

• Authors: H Sakaguchi, T Sanke, S Ohagi, T Iiri, K Nanjo
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 83 Issue 5 Pg. 1563-5 (May 1998) ISSN: 0021-972X [Print] United States
• PMID: 9589656 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Human Growth Hormone
• GTP-Binding Protein alpha Subunits, Gs

Topics

• Adult
• Chromosomes, Human, Pair 2
• DNA Mutational Analysis
• Diabetes Insipidus (complications)
• Diabetes Mellitus, Type 2 (complications)
• Endocrine System Diseases (complications)
• Female
• Fibrous Dysplasia, Polyostotic (complications, genetics)
• GTP-Binding Protein alpha Subunits, Gs (genetics, metabolism)
• Human Growth Hormone (deficiency, metabolism)
• Humans
• Insulin Resistance
• Karyotyping