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Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood
A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. A...
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Published in: | Urology (Ridgewood, N.J.) N.J.), 2019-07, Vol.129, p.68-70 |
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container_title | Urology (Ridgewood, N.J.) |
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creator | Caputo, Marina Mele, Chiara Zavattaro, Marco Samà, Maria Teresa Giordano, Mara Umari, Paolo Volpe, Alessandro Aimaretti, Gianluca Prodam, Flavia |
description | A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed the presence of uterus-like structure, right annex, and left testes without prostate. He underwent laparoscopic removal of dysgenetic tissues; histologic examination confirmed the presence of little uterus, fallopian tubes, little atrophic ovary, and vaginal tract; left testes was atrophic with sclero-jalinosis of seminal tubes and Leydig's cells hyperplasia. Testosterone replacement therapy was started after surgery and prostate became MRI visible after 2 years. |
doi_str_mv | 10.1016/j.urology.2019.04.008 |
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Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed the presence of uterus-like structure, right annex, and left testes without prostate. He underwent laparoscopic removal of dysgenetic tissues; histologic examination confirmed the presence of little uterus, fallopian tubes, little atrophic ovary, and vaginal tract; left testes was atrophic with sclero-jalinosis of seminal tubes and Leydig's cells hyperplasia. Testosterone replacement therapy was started after surgery and prostate became MRI visible after 2 years.</description><identifier>ISSN: 0090-4295</identifier><identifier>EISSN: 1527-9995</identifier><identifier>DOI: 10.1016/j.urology.2019.04.008</identifier><identifier>PMID: 31005658</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Humans ; Karyotype ; Male ; Middle Aged ; Ovotesticular Disorders of Sex Development - classification ; Ovotesticular Disorders of Sex Development - diagnosis ; Ovotesticular Disorders of Sex Development - genetics</subject><ispartof>Urology (Ridgewood, N.J.), 2019-07, Vol.129, p.68-70</ispartof><rights>2019 Elsevier Inc.</rights><rights>Copyright © 2019 Elsevier Inc. 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Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed the presence of uterus-like structure, right annex, and left testes without prostate. He underwent laparoscopic removal of dysgenetic tissues; histologic examination confirmed the presence of little uterus, fallopian tubes, little atrophic ovary, and vaginal tract; left testes was atrophic with sclero-jalinosis of seminal tubes and Leydig's cells hyperplasia. Testosterone replacement therapy was started after surgery and prostate became MRI visible after 2 years.</description><subject>Humans</subject><subject>Karyotype</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Ovotesticular Disorders of Sex Development - classification</subject><subject>Ovotesticular Disorders of Sex Development - diagnosis</subject><subject>Ovotesticular Disorders of Sex Development - genetics</subject><issn>0090-4295</issn><issn>1527-9995</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNqFkE-P0zAQxS0EYsvCRwD5yCXZsePYMRdUtfyTKq3EgrScLMeeLC5pXOykot-elBaunEYz82ae3o-QlwxKBkzebMspxT4-HEsOTJcgSoDmEVmwmqtCa10_JgsADYXgur4iz3LeAoCUUj0lVxUDqGXdLEi-PcQR8xjc1NtE1yHH5DHR2NE7_EXXeMA-7nc4jG_okn62CenKZjztN3bEZHt6N7XjcY9U1Pc3Qt5_oz9sCvHPaB3swxAzehoGuvRTP36P0T8nTzrbZ3xxqdfk6_t3X1Yfi83th0-r5aZwlazHomlBtbazljkldIO8Ylp77VGLpumg0drqChmoxouKIzinZKNAtHPDlHbVNXl9_rtP8ec0hzS7kB32vR0wTtlwzrjiUmg1S-uz1KWYc8LO7FPY2XQ0DMyJt9maC29z4m1AmJn3fPfqYjG1O_T_rv4CngVvzwKcgx4CJpNdwMGhDwndaHwM_7H4DV0Ik8c</recordid><startdate>201907</startdate><enddate>201907</enddate><creator>Caputo, Marina</creator><creator>Mele, Chiara</creator><creator>Zavattaro, Marco</creator><creator>Samà, Maria Teresa</creator><creator>Giordano, Mara</creator><creator>Umari, Paolo</creator><creator>Volpe, Alessandro</creator><creator>Aimaretti, Gianluca</creator><creator>Prodam, Flavia</creator><general>Elsevier Inc</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>7X8</scope></search><sort><creationdate>201907</creationdate><title>Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood</title><author>Caputo, Marina ; Mele, Chiara ; Zavattaro, Marco ; Samà, Maria Teresa ; Giordano, Mara ; Umari, Paolo ; Volpe, Alessandro ; Aimaretti, Gianluca ; Prodam, Flavia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c365t-8b07bafaa1c7498e23199d9de9488f0899a93e1078d432e0cc768704b32e179c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Humans</topic><topic>Karyotype</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Ovotesticular Disorders of Sex Development - classification</topic><topic>Ovotesticular Disorders of Sex Development - diagnosis</topic><topic>Ovotesticular Disorders of Sex Development - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Caputo, Marina</creatorcontrib><creatorcontrib>Mele, Chiara</creatorcontrib><creatorcontrib>Zavattaro, Marco</creatorcontrib><creatorcontrib>Samà, Maria Teresa</creatorcontrib><creatorcontrib>Giordano, Mara</creatorcontrib><creatorcontrib>Umari, Paolo</creatorcontrib><creatorcontrib>Volpe, Alessandro</creatorcontrib><creatorcontrib>Aimaretti, Gianluca</creatorcontrib><creatorcontrib>Prodam, Flavia</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Urology (Ridgewood, N.J.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Caputo, Marina</au><au>Mele, Chiara</au><au>Zavattaro, Marco</au><au>Samà, Maria Teresa</au><au>Giordano, Mara</au><au>Umari, Paolo</au><au>Volpe, Alessandro</au><au>Aimaretti, Gianluca</au><au>Prodam, Flavia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood</atitle><jtitle>Urology (Ridgewood, N.J.)</jtitle><addtitle>Urology</addtitle><date>2019-07</date><risdate>2019</risdate><volume>129</volume><spage>68</spage><epage>70</epage><pages>68-70</pages><issn>0090-4295</issn><eissn>1527-9995</eissn><abstract>A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. 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subjects | Humans Karyotype Male Middle Aged Ovotesticular Disorders of Sex Development - classification Ovotesticular Disorders of Sex Development - diagnosis Ovotesticular Disorders of Sex Development - genetics |
title | Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood |
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