Clinical and genetic study of a 46, XX man with occult mosaicism
To describe a 46,XX male with a hidden mosaicism. Clinical, hormonal and genetic findings are presented. The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration o...
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| Veröffentlicht in: | Archivos españoles de urología 2002-10, Vol.55 (8), p.952-954 |
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| container_title | Archivos españoles de urología |
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| creator | Maciá Bobes, Carmen Alonso Troncoso, Isabel Botas Cervero, Patricia Castaño Fernández, Gloria Fau Cubero, Carmen |
| description | To describe a 46,XX male with a hidden mosaicism.
Clinical, hormonal and genetic findings are presented.
The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis. |
| format | Article |
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Clinical, hormonal and genetic findings are presented.
The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.</description><identifier>ISSN: 0004-0614</identifier><identifier>PMID: 12455288</identifier><language>spa</language><publisher>Spain</publisher><subject>Adult ; Chromosome Deletion ; Chromosomes, Human, Y - genetics ; Chromosomes, Human, Y - ultrastructure ; Follicle Stimulating Hormone - blood ; Gynecomastia - etiology ; Humans ; Klinefelter Syndrome - blood ; Klinefelter Syndrome - genetics ; Luteinizing Hormone - blood ; Male ; Mosaicism - genetics ; Phenotype ; Prolactin - blood ; Puberty, Delayed - etiology ; Sex Chromosome Aberrations ; Sex Determination Processes ; Testosterone - blood ; Testosterone - therapeutic use</subject><ispartof>Archivos españoles de urología, 2002-10, Vol.55 (8), p.952-954</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12455288$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maciá Bobes, Carmen</creatorcontrib><creatorcontrib>Alonso Troncoso, Isabel</creatorcontrib><creatorcontrib>Botas Cervero, Patricia</creatorcontrib><creatorcontrib>Castaño Fernández, Gloria</creatorcontrib><creatorcontrib>Fau Cubero, Carmen</creatorcontrib><title>Clinical and genetic study of a 46, XX man with occult mosaicism</title><title>Archivos españoles de urología</title><addtitle>Arch Esp Urol</addtitle><description>To describe a 46,XX male with a hidden mosaicism.
Clinical, hormonal and genetic findings are presented.
The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.</description><subject>Adult</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Y - genetics</subject><subject>Chromosomes, Human, Y - ultrastructure</subject><subject>Follicle Stimulating Hormone - blood</subject><subject>Gynecomastia - etiology</subject><subject>Humans</subject><subject>Klinefelter Syndrome - blood</subject><subject>Klinefelter Syndrome - genetics</subject><subject>Luteinizing Hormone - blood</subject><subject>Male</subject><subject>Mosaicism - genetics</subject><subject>Phenotype</subject><subject>Prolactin - blood</subject><subject>Puberty, Delayed - etiology</subject><subject>Sex Chromosome Aberrations</subject><subject>Sex Determination Processes</subject><subject>Testosterone - blood</subject><subject>Testosterone - therapeutic use</subject><issn>0004-0614</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j8tKw0AUQGehtLX2F-SuXBm4mVenOyX4goKbLroL89SRmSRmEqR_r2Bdnc3hwLkgK0TkFcqaL8lVKZ-ITNVCLMiyplwIqtSK3DcpdtHqBLpz8O47P0ULZZrdCfoAGri8g-MRsu7gO04f0Fs7pwlyX3S0seRrchl0Kn5z5pocnh4PzUu1f3t-bR721SC4qljgXDI03qGTrpY7pJoqp4Kn3ChnqLI7ZhzVjgnDWWAoMZjAg5AKlaVsTW7_ssPYf82-TG2OxfqUdOf7ubRbuq2lEuxXvDmLs8netcMYsx5P7f8y-wHv3E-5</recordid><startdate>200210</startdate><enddate>200210</enddate><creator>Maciá Bobes, Carmen</creator><creator>Alonso Troncoso, Isabel</creator><creator>Botas Cervero, Patricia</creator><creator>Castaño Fernández, Gloria</creator><creator>Fau Cubero, Carmen</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200210</creationdate><title>Clinical and genetic study of a 46, XX man with occult mosaicism</title><author>Maciá Bobes, Carmen ; Alonso Troncoso, Isabel ; Botas Cervero, Patricia ; Castaño Fernández, Gloria ; Fau Cubero, Carmen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p548-3f44630bed0d6d16902a28d8fe24b8db28c93bd2ad35b43f3060fbf4f56808c23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>spa</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Y - genetics</topic><topic>Chromosomes, Human, Y - ultrastructure</topic><topic>Follicle Stimulating Hormone - blood</topic><topic>Gynecomastia - etiology</topic><topic>Humans</topic><topic>Klinefelter Syndrome - blood</topic><topic>Klinefelter Syndrome - genetics</topic><topic>Luteinizing Hormone - blood</topic><topic>Male</topic><topic>Mosaicism - genetics</topic><topic>Phenotype</topic><topic>Prolactin - blood</topic><topic>Puberty, Delayed - etiology</topic><topic>Sex Chromosome Aberrations</topic><topic>Sex Determination Processes</topic><topic>Testosterone - blood</topic><topic>Testosterone - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Maciá Bobes, Carmen</creatorcontrib><creatorcontrib>Alonso Troncoso, Isabel</creatorcontrib><creatorcontrib>Botas Cervero, Patricia</creatorcontrib><creatorcontrib>Castaño Fernández, Gloria</creatorcontrib><creatorcontrib>Fau Cubero, Carmen</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Archivos españoles de urología</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maciá Bobes, Carmen</au><au>Alonso Troncoso, Isabel</au><au>Botas Cervero, Patricia</au><au>Castaño Fernández, Gloria</au><au>Fau Cubero, Carmen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and genetic study of a 46, XX man with occult mosaicism</atitle><jtitle>Archivos españoles de urología</jtitle><addtitle>Arch Esp Urol</addtitle><date>2002-10</date><risdate>2002</risdate><volume>55</volume><issue>8</issue><spage>952</spage><epage>954</epage><pages>952-954</pages><issn>0004-0614</issn><abstract>To describe a 46,XX male with a hidden mosaicism.
Clinical, hormonal and genetic findings are presented.
The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.</abstract><cop>Spain</cop><pmid>12455288</pmid><tpages>3</tpages></addata></record> |
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| ispartof | Archivos españoles de urología, 2002-10, Vol.55 (8), p.952-954 |
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| language | spa |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Adult Chromosome Deletion Chromosomes, Human, Y - genetics Chromosomes, Human, Y - ultrastructure Follicle Stimulating Hormone - blood Gynecomastia - etiology Humans Klinefelter Syndrome - blood Klinefelter Syndrome - genetics Luteinizing Hormone - blood Male Mosaicism - genetics Phenotype Prolactin - blood Puberty, Delayed - etiology Sex Chromosome Aberrations Sex Determination Processes Testosterone - blood Testosterone - therapeutic use |
| title | Clinical and genetic study of a 46, XX man with occult mosaicism |
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