A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37.
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.
Sakaguchi
H
H
First Department of Medicine, Wakayama University of Medical Science, Japan. nishihos@naxnet.or.jp
Sanke
T
T
Ohagi
S
S
Iiri
T
T
Nanjo
K
K
D000328:Adult; D002889:Chromosomes, Human, Pair 2; D004252:DNA Mutational Analysis; D003919:Diabetes Insipidus / Q000150:complications; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D004700:Endocrine System Diseases / Q000150:complications*; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications* / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics* / Q000378:metabolism; D019382:Human Growth Hormone / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D007333:Insulin Resistance; D007621:Karyotyping
D019382:Human Growth Hormone; D019205:GTP-Binding Protein alpha Subunits, Gs