Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation
Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually co...
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| Veröffentlicht in: | Sexual development 2016-02, Vol.9 (5), p.279-288 |
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| creator | Kamel, Alaa K. Abd El-Ghany, Hoda M. Mekkawy, Mona K. Makhlouf, Manal M. Mazen, Inas M. El Dessouky, Nabil Mahmoud, Wael Abd El Kader, Shereen A. |
| description | Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis. |
| doi_str_mv | 10.1159/000442332 |
| format | Article |
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The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis.</description><identifier>ISSN: 1661-5425</identifier><identifier>EISSN: 1661-5433</identifier><identifier>DOI: 10.1159/000442332</identifier><identifier>PMID: 26656938</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Adolescent ; Causes of ; Child ; Child, Preschool ; Chromosomes, Human, X - genetics ; Complications and side effects ; Disorders of Sex Development - genetics ; Egypt ; Female ; Genetic aspects ; Gonads ; Gonads - embryology ; Gonads - pathology ; Gonads - ultrastructure ; Health aspects ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Lymphocytes - ultrastructure ; Male ; Mosaicism ; Organogenesis ; Original Article ; Phenotype ; Physiological aspects ; Pseudohermaphroditism ; Sex chromosomes ; Sex Chromosomes - genetics ; Sex Chromosomes - ultrastructure ; Sex differentiation disorders ; Sexual Development - genetics</subject><ispartof>Sexual development, 2016-02, Vol.9 (5), p.279-288</ispartof><rights>2015 S. Karger AG, Basel</rights><rights>2015 S. Karger AG, Basel.</rights><rights>COPYRIGHT 2016 S. Karger AG</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c477t-7fcad0911f0d4fb1427133e9b0d9865bd38ee3a4abc351374906df323add7983</citedby><cites>FETCH-LOGICAL-c477t-7fcad0911f0d4fb1427133e9b0d9865bd38ee3a4abc351374906df323add7983</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,2433,27933,27934</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26656938$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kamel, Alaa K.</creatorcontrib><creatorcontrib>Abd El-Ghany, Hoda M.</creatorcontrib><creatorcontrib>Mekkawy, Mona K.</creatorcontrib><creatorcontrib>Makhlouf, Manal M.</creatorcontrib><creatorcontrib>Mazen, Inas M.</creatorcontrib><creatorcontrib>El Dessouky, Nabil</creatorcontrib><creatorcontrib>Mahmoud, Wael</creatorcontrib><creatorcontrib>Abd El Kader, Shereen A.</creatorcontrib><title>Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation</title><title>Sexual development</title><addtitle>Sex Dev</addtitle><description>Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis.</description><subject>Adolescent</subject><subject>Causes of</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Complications and side effects</subject><subject>Disorders of Sex Development - genetics</subject><subject>Egypt</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Gonads</subject><subject>Gonads - embryology</subject><subject>Gonads - pathology</subject><subject>Gonads - ultrastructure</subject><subject>Health aspects</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Karyotyping</subject><subject>Lymphocytes - ultrastructure</subject><subject>Male</subject><subject>Mosaicism</subject><subject>Organogenesis</subject><subject>Original Article</subject><subject>Phenotype</subject><subject>Physiological aspects</subject><subject>Pseudohermaphroditism</subject><subject>Sex chromosomes</subject><subject>Sex Chromosomes - genetics</subject><subject>Sex Chromosomes - ultrastructure</subject><subject>Sex differentiation disorders</subject><subject>Sexual Development - genetics</subject><issn>1661-5425</issn><issn>1661-5433</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0U1rGzEQBmBRGpqP9tB7KYJckoNjaaWVdnszzidxaahz6UloVyNb7e7KlWRI_n2U2DEEgg4axDMDoxehr5ScUVrWY0II5wVjxQd0QIWgo5Iz9nFXF-U-OozxLyGCFEX5Ce0XQpSiZtUB-jOHBzxdBt_76HvAP33UrnWxx27AaQn4yg_aROwtPp-f4zudHAwp_sATfKvDo0-PKxjfLWF4qfDUhwBdRn74jPas7iJ82d5H6P7y4n56PZr9urqZTmajlkuZRtK22pCaUksMtw3lhaSMQd0QU1eibAyrAJjmumlZSZnkNRHGsoJpY2RdsSN0shm7Cv7_GmJSvYstdJ0ewK-jolJQLiopZKbHG7rQHSg3WJ-Cbp-5mog8uZSC0azO3lH5GOhd6wewLr-_aTh905BNgoe00OsY1c3897u2DT7GAFatguvzRypK1HOWapdltt-3m62bHsxOvoaXwbcN-KfDAsIObPufAJGnnrM</recordid><startdate>201602</startdate><enddate>201602</enddate><creator>Kamel, Alaa K.</creator><creator>Abd El-Ghany, Hoda M.</creator><creator>Mekkawy, Mona K.</creator><creator>Makhlouf, Manal M.</creator><creator>Mazen, Inas M.</creator><creator>El Dessouky, Nabil</creator><creator>Mahmoud, Wael</creator><creator>Abd El Kader, Shereen A.</creator><general>S. Karger AG</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>7X8</scope></search><sort><creationdate>201602</creationdate><title>Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation</title><author>Kamel, Alaa K. ; Abd El-Ghany, Hoda M. ; Mekkawy, Mona K. ; Makhlouf, Manal M. ; Mazen, Inas M. ; El Dessouky, Nabil ; Mahmoud, Wael ; Abd El Kader, Shereen A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c477t-7fcad0911f0d4fb1427133e9b0d9865bd38ee3a4abc351374906df323add7983</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adolescent</topic><topic>Causes of</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Complications and side effects</topic><topic>Disorders of Sex Development - genetics</topic><topic>Egypt</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Gonads</topic><topic>Gonads - embryology</topic><topic>Gonads - pathology</topic><topic>Gonads - ultrastructure</topic><topic>Health aspects</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Karyotyping</topic><topic>Lymphocytes - ultrastructure</topic><topic>Male</topic><topic>Mosaicism</topic><topic>Organogenesis</topic><topic>Original Article</topic><topic>Phenotype</topic><topic>Physiological aspects</topic><topic>Pseudohermaphroditism</topic><topic>Sex chromosomes</topic><topic>Sex Chromosomes - genetics</topic><topic>Sex Chromosomes - ultrastructure</topic><topic>Sex differentiation disorders</topic><topic>Sexual Development - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kamel, Alaa K.</creatorcontrib><creatorcontrib>Abd El-Ghany, Hoda M.</creatorcontrib><creatorcontrib>Mekkawy, Mona K.</creatorcontrib><creatorcontrib>Makhlouf, Manal M.</creatorcontrib><creatorcontrib>Mazen, Inas M.</creatorcontrib><creatorcontrib>El Dessouky, Nabil</creatorcontrib><creatorcontrib>Mahmoud, Wael</creatorcontrib><creatorcontrib>Abd El Kader, Shereen A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>MEDLINE - Academic</collection><jtitle>Sexual development</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kamel, Alaa K.</au><au>Abd El-Ghany, Hoda M.</au><au>Mekkawy, Mona K.</au><au>Makhlouf, Manal M.</au><au>Mazen, Inas M.</au><au>El Dessouky, Nabil</au><au>Mahmoud, Wael</au><au>Abd El Kader, Shereen A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation</atitle><jtitle>Sexual development</jtitle><addtitle>Sex Dev</addtitle><date>2016-02</date><risdate>2016</risdate><volume>9</volume><issue>5</issue><spage>279</spage><epage>288</epage><pages>279-288</pages><issn>1661-5425</issn><eissn>1661-5433</eissn><abstract>Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>26656938</pmid><doi>10.1159/000442332</doi><tpages>10</tpages></addata></record> |
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| ispartof | Sexual development, 2016-02, Vol.9 (5), p.279-288 |
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| subjects | Adolescent Causes of Child Child, Preschool Chromosomes, Human, X - genetics Complications and side effects Disorders of Sex Development - genetics Egypt Female Genetic aspects Gonads Gonads - embryology Gonads - pathology Gonads - ultrastructure Health aspects Humans In Situ Hybridization, Fluorescence Infant Karyotyping Lymphocytes - ultrastructure Male Mosaicism Organogenesis Original Article Phenotype Physiological aspects Pseudohermaphroditism Sex chromosomes Sex Chromosomes - genetics Sex Chromosomes - ultrastructure Sex differentiation disorders Sexual Development - genetics |
| title | Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation |
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