A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : Normal Gsα 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 resistan...
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| Veröffentlicht in: | The journal of clinical endocrinology and metabolism 1998-05, Vol.83 (5), p.1563-1565 |
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| container_issue | 5 |
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| container_title | The journal of clinical endocrinology and metabolism |
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| creator | SAKAGUCHI, H SANKE, T OHAGI, S IIRI, T NANJO, K |
| description | 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. |
| doi_str_mv | 10.1210/jcem.83.5.4781 |
| format | Article |
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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.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jcem.83.5.4781</identifier><identifier>PMID: 9589656</identifier><identifier>CODEN: JCEMAZ</identifier><language>eng</language><publisher>Bethesda, MD: Endocrine Society</publisher><subject>Adult ; Biological and medical sciences ; Chromosomes, Human, Pair 2 ; Diabetes Insipidus - complications ; Diabetes Mellitus, Type 2 - complications ; Diseases of the osteoarticular system ; DNA Mutational Analysis ; Endocrine System Diseases - complications ; Female ; Fibrous Dysplasia, Polyostotic - complications ; Fibrous Dysplasia, Polyostotic - genetics ; GTP-Binding Protein alpha Subunits, Gs - genetics ; GTP-Binding Protein alpha Subunits, Gs - metabolism ; Human Growth Hormone - deficiency ; Human Growth Hormone - secretion ; Humans ; Insulin Resistance ; Karyotyping ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences</subject><ispartof>The journal of clinical endocrinology and metabolism, 1998-05, Vol.83 (5), p.1563-1565</ispartof><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2238101$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9589656$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SAKAGUCHI, H</creatorcontrib><creatorcontrib>SANKE, T</creatorcontrib><creatorcontrib>OHAGI, S</creatorcontrib><creatorcontrib>IIRI, T</creatorcontrib><creatorcontrib>NANJO, K</creatorcontrib><title>A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : Normal Gsα gene and chromosome 2q37</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>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.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Diabetes Insipidus - complications</subject><subject>Diabetes Mellitus, Type 2 - complications</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA Mutational Analysis</subject><subject>Endocrine System Diseases - complications</subject><subject>Female</subject><subject>Fibrous Dysplasia, Polyostotic - complications</subject><subject>Fibrous Dysplasia, Polyostotic - genetics</subject><subject>GTP-Binding Protein alpha Subunits, Gs - genetics</subject><subject>GTP-Binding Protein alpha Subunits, Gs - metabolism</subject><subject>Human Growth Hormone - deficiency</subject><subject>Human Growth Hormone - secretion</subject><subject>Humans</subject><subject>Insulin Resistance</subject><subject>Karyotyping</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><issn>0021-972X</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkLtuFDEYRi0ECptAS4fkAkE1i69jm24VQUCKkiYF3cqX3xmHmfHEno00z8DT8CJ5pkzEipbqK87RKT6E3lGypYySz3cehq3mW7kVStMXaEONkI2iRr1EG0IYbYxiP1-j01rvCKFCSH6CTozUppXtBv3eYW8r4Bzxrncl3Xbzp4o7KBDSbMuCc50hh6XOJU_d0vTpF-C6jKHkAbDPw9Qnb2cI2C24wgMU22MYQ_YljXmyc5eg4i_4KpdhJRf18Q--hRGwHQP23VrJ9bnE7rl6g15F21d4e9wzdPPt68359-by-uLH-e6ymaimc6O5o0S5lntKorc6BhZoaF0ro26tcDRa6Yy0nMkYrHNBm8iFica1IhLFz9DHv9mp5PsD1Hk_pOqh7-0I-VD3ymjNufq_SFshDSNiFd8fxYMbIOynkob1u_3x5ZV_OHJbve1jsaNP9Z_GGNeUUP4ESkGPPA</recordid><startdate>199805</startdate><enddate>199805</enddate><creator>SAKAGUCHI, H</creator><creator>SANKE, T</creator><creator>OHAGI, S</creator><creator>IIRI, T</creator><creator>NANJO, K</creator><general>Endocrine Society</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7QP</scope><scope>7X8</scope></search><sort><creationdate>199805</creationdate><title>A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : Normal Gsα gene and chromosome 2q37</title><author>SAKAGUCHI, H ; SANKE, T ; OHAGI, S ; IIRI, T ; NANJO, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p181t-83b107b63c10fca8fd2d1d6b65f86a4b1fa5b95a325fdabbd89f349f9b64f073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Diabetes Insipidus - complications</topic><topic>Diabetes Mellitus, Type 2 - complications</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA Mutational Analysis</topic><topic>Endocrine System Diseases - complications</topic><topic>Female</topic><topic>Fibrous Dysplasia, Polyostotic - complications</topic><topic>Fibrous Dysplasia, Polyostotic - genetics</topic><topic>GTP-Binding Protein alpha Subunits, Gs - genetics</topic><topic>GTP-Binding Protein alpha Subunits, Gs - metabolism</topic><topic>Human Growth Hormone - deficiency</topic><topic>Human Growth Hormone - secretion</topic><topic>Humans</topic><topic>Insulin Resistance</topic><topic>Karyotyping</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SAKAGUCHI, H</creatorcontrib><creatorcontrib>SANKE, T</creatorcontrib><creatorcontrib>OHAGI, S</creatorcontrib><creatorcontrib>IIRI, T</creatorcontrib><creatorcontrib>NANJO, K</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SAKAGUCHI, H</au><au>SANKE, T</au><au>OHAGI, S</au><au>IIRI, T</au><au>NANJO, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : Normal Gsα gene and chromosome 2q37</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>1998-05</date><risdate>1998</risdate><volume>83</volume><issue>5</issue><spage>1563</spage><epage>1565</epage><pages>1563-1565</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><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.</abstract><cop>Bethesda, MD</cop><pub>Endocrine Society</pub><pmid>9589656</pmid><doi>10.1210/jcem.83.5.4781</doi><tpages>3</tpages></addata></record> |
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| ispartof | The journal of clinical endocrinology and metabolism, 1998-05, Vol.83 (5), p.1563-1565 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current) |
| subjects | Adult Biological and medical sciences Chromosomes, Human, Pair 2 Diabetes Insipidus - complications Diabetes Mellitus, Type 2 - complications Diseases of the osteoarticular system DNA Mutational Analysis Endocrine System Diseases - complications Female Fibrous Dysplasia, Polyostotic - complications Fibrous Dysplasia, Polyostotic - genetics GTP-Binding Protein alpha Subunits, Gs - genetics GTP-Binding Protein alpha Subunits, Gs - metabolism Human Growth Hormone - deficiency Human Growth Hormone - secretion Humans Insulin Resistance Karyotyping Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences |
| title | A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies : Normal Gsα gene and chromosome 2q37 |
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