A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7
Small supernumerary marker chromosomes (sSMCs) are present in ~2.6×106 individuals worldwide. Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present st...
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| Veröffentlicht in: | Molecular medicine reports 2013-05, Vol.7 (5), p.1545-1548 |
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| creator | AL-ACHKAR, WALID WAFA, ABDULSAMAD ASSAAD, MANAR EHLERS, CHRISTIAN LIEHR, THOMAS |
| description | Small supernumerary marker chromosomes (sSMCs) are present in ~2.6×106 individuals worldwide. Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present study, we report on a female with mosaicism (45%) of a de novo sSMC derived from chromosome 7, in which the observed clinical signs do not correspond to comparable cases in the literature. She is clinically normal apart from problems in gender determination, a uterus without ovaries and an external penis, pointing overall towards an adrenogenital syndrome (AGS). 21-Hydroxylase deficiency (21-OHD) is the most common cause of AGS. A corresponding analysis for underlying mutations in the CYP21A2 gene revealed a homozygous mutation c.518T>A (p.Ile173Asn) inherited from both non-related parents. Overall, in this study, we report a unique case of female pseudohermaphroditism, classified as a simple virilization form of 21-OHD having an additional minute-shaped chromosome 7 [min(7)(:p11.1->q11.23:)]. Notably, AGS was due to a mutation in the CYP21A2 gene located on chromosome 6. This is a further example that detection of an sSMC does not always resolve the clinical case. |
| doi_str_mv | 10.3892/mmr.2013.1349 |
| format | Article |
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Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present study, we report on a female with mosaicism (45%) of a de novo sSMC derived from chromosome 7, in which the observed clinical signs do not correspond to comparable cases in the literature. She is clinically normal apart from problems in gender determination, a uterus without ovaries and an external penis, pointing overall towards an adrenogenital syndrome (AGS). 21-Hydroxylase deficiency (21-OHD) is the most common cause of AGS. A corresponding analysis for underlying mutations in the CYP21A2 gene revealed a homozygous mutation c.518T>A (p.Ile173Asn) inherited from both non-related parents. Overall, in this study, we report a unique case of female pseudohermaphroditism, classified as a simple virilization form of 21-OHD having an additional minute-shaped chromosome 7 [min(7)(:p11.1->q11.23:)]. Notably, AGS was due to a mutation in the CYP21A2 gene located on chromosome 6. This is a further example that detection of an sSMC does not always resolve the clinical case.</description><identifier>ISSN: 1791-2997</identifier><identifier>EISSN: 1791-3004</identifier><identifier>DOI: 10.3892/mmr.2013.1349</identifier><identifier>PMID: 23450434</identifier><language>eng</language><publisher>Greece: D.A. Spandidos</publisher><subject>21-hydroxylase deficiency ; 46, XX Disorders of Sex Development - enzymology ; 46, XX Disorders of Sex Development - genetics ; Adrenal glands ; Adrenal Glands - diagnostic imaging ; Adrenal Glands - pathology ; Adult ; Age ; Base Sequence ; Child ; Child, Preschool ; Chromosome 6 ; Chromosome 7 ; Chromosome Banding ; Chromosomes ; Chromosomes, Human, Pair 7 - genetics ; congenital adrenal hyperplasia ; CYP21A2 gene ; Cytogenetic Analysis ; Cytogenetics ; Enzymes ; Exons - genetics ; Facies ; Female ; Genes ; Genetic Markers ; Genotype & phenotype ; Homozygote ; Humans ; Hydroxylase ; Infant, Newborn ; Male ; Middle Aged ; molecular cytogenetics ; Molecular Sequence Data ; Mosaicism ; Mutation ; Mutation - genetics ; Ovaries ; Patients ; Penis ; Pseudohermaphroditism ; Ring Chromosomes ; small supernumerary marker chromosome 7 ; Steroid 21-Hydroxylase - metabolism ; Supernumerary ; Tomography, X-Ray Computed ; Uterus</subject><ispartof>Molecular medicine reports, 2013-05, Vol.7 (5), p.1545-1548</ispartof><rights>Copyright © 2013, Spandidos Publications</rights><rights>Copyright Spandidos Publications UK Ltd. 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c348t-2c646c0e7ac98c96bbf58562c6cd5e0122b448afd9ad38f44d79555dec9ffb973</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,5556,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23450434$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>AL-ACHKAR, WALID</creatorcontrib><creatorcontrib>WAFA, ABDULSAMAD</creatorcontrib><creatorcontrib>ASSAAD, MANAR</creatorcontrib><creatorcontrib>EHLERS, CHRISTIAN</creatorcontrib><creatorcontrib>LIEHR, THOMAS</creatorcontrib><title>A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7</title><title>Molecular medicine reports</title><addtitle>Mol Med Rep</addtitle><description>Small supernumerary marker chromosomes (sSMCs) are present in ~2.6×106 individuals worldwide. Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present study, we report on a female with mosaicism (45%) of a de novo sSMC derived from chromosome 7, in which the observed clinical signs do not correspond to comparable cases in the literature. She is clinically normal apart from problems in gender determination, a uterus without ovaries and an external penis, pointing overall towards an adrenogenital syndrome (AGS). 21-Hydroxylase deficiency (21-OHD) is the most common cause of AGS. A corresponding analysis for underlying mutations in the CYP21A2 gene revealed a homozygous mutation c.518T>A (p.Ile173Asn) inherited from both non-related parents. Overall, in this study, we report a unique case of female pseudohermaphroditism, classified as a simple virilization form of 21-OHD having an additional minute-shaped chromosome 7 [min(7)(:p11.1->q11.23:)]. Notably, AGS was due to a mutation in the CYP21A2 gene located on chromosome 6. This is a further example that detection of an sSMC does not always resolve the clinical case.</description><subject>21-hydroxylase deficiency</subject><subject>46, XX Disorders of Sex Development - enzymology</subject><subject>46, XX Disorders of Sex Development - genetics</subject><subject>Adrenal glands</subject><subject>Adrenal Glands - diagnostic imaging</subject><subject>Adrenal Glands - pathology</subject><subject>Adult</subject><subject>Age</subject><subject>Base Sequence</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome 6</subject><subject>Chromosome 7</subject><subject>Chromosome Banding</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 7 - genetics</subject><subject>congenital adrenal hyperplasia</subject><subject>CYP21A2 gene</subject><subject>Cytogenetic Analysis</subject><subject>Cytogenetics</subject><subject>Enzymes</subject><subject>Exons - genetics</subject><subject>Facies</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic Markers</subject><subject>Genotype & phenotype</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Hydroxylase</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Middle Aged</subject><subject>molecular cytogenetics</subject><subject>Molecular Sequence Data</subject><subject>Mosaicism</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Ovaries</subject><subject>Patients</subject><subject>Penis</subject><subject>Pseudohermaphroditism</subject><subject>Ring Chromosomes</subject><subject>small supernumerary marker chromosome 7</subject><subject>Steroid 21-Hydroxylase - metabolism</subject><subject>Supernumerary</subject><subject>Tomography, X-Ray Computed</subject><subject>Uterus</subject><issn>1791-2997</issn><issn>1791-3004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkU2LFDEQhoMo7ocevUrAg14y5rO7c1yW1RUWvOg5pJMKk7XTaZNp3P73ZphxD55ShKdequpB6B2jOzFo_jmlsuOUiR0TUr9Al6zXjAhK5ctzzbXuL9BVrY-Udoor_RpdcCEVlUJeoqcbvM7x9wrY2Qo4Bxwg2QnwUmH1eQ8l2WVfso-HWBP-Ew97zBnZb77kp2069ngI0UWY3Ybt7HFt7ROu6wJlXhMUWzacbPkFBbsWlHLNCXD_Br0Kdqrw9vxeo59f7n7c3pOH71-_3d48ECfkcCDcdbJzFHrr9OB0N45BDapr384roIzzUcrBBq-tF0OQ0vdaKeXB6RBG3Ytr9OmUu5Tc1qwHk2J1ME12hrxWwwSXuuO06xr64T_0Ma9lbtMZphumBkFVo8iJciXXWiCYpcS24GYYNUclpikxRyXmqKTx78-p65jAP9P_HDTg4wmoS7tf9Lk-My2J0J5QRZiSSvwFpN6WMw</recordid><startdate>20130501</startdate><enddate>20130501</enddate><creator>AL-ACHKAR, WALID</creator><creator>WAFA, ABDULSAMAD</creator><creator>ASSAAD, MANAR</creator><creator>EHLERS, CHRISTIAN</creator><creator>LIEHR, THOMAS</creator><general>D.A. Spandidos</general><general>Spandidos Publications UK Ltd</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20130501</creationdate><title>A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7</title><author>AL-ACHKAR, WALID ; WAFA, ABDULSAMAD ; ASSAAD, MANAR ; EHLERS, CHRISTIAN ; LIEHR, THOMAS</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c348t-2c646c0e7ac98c96bbf58562c6cd5e0122b448afd9ad38f44d79555dec9ffb973</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>21-hydroxylase deficiency</topic><topic>46, XX Disorders of Sex Development - enzymology</topic><topic>46, XX Disorders of Sex Development - genetics</topic><topic>Adrenal glands</topic><topic>Adrenal Glands - diagnostic imaging</topic><topic>Adrenal Glands - pathology</topic><topic>Adult</topic><topic>Age</topic><topic>Base Sequence</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome 6</topic><topic>Chromosome 7</topic><topic>Chromosome Banding</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 7 - genetics</topic><topic>congenital adrenal hyperplasia</topic><topic>CYP21A2 gene</topic><topic>Cytogenetic Analysis</topic><topic>Cytogenetics</topic><topic>Enzymes</topic><topic>Exons - genetics</topic><topic>Facies</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic Markers</topic><topic>Genotype & phenotype</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Hydroxylase</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Middle Aged</topic><topic>molecular cytogenetics</topic><topic>Molecular Sequence Data</topic><topic>Mosaicism</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Ovaries</topic><topic>Patients</topic><topic>Penis</topic><topic>Pseudohermaphroditism</topic><topic>Ring Chromosomes</topic><topic>small supernumerary marker chromosome 7</topic><topic>Steroid 21-Hydroxylase - metabolism</topic><topic>Supernumerary</topic><topic>Tomography, X-Ray Computed</topic><topic>Uterus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>AL-ACHKAR, WALID</creatorcontrib><creatorcontrib>WAFA, ABDULSAMAD</creatorcontrib><creatorcontrib>ASSAAD, MANAR</creatorcontrib><creatorcontrib>EHLERS, CHRISTIAN</creatorcontrib><creatorcontrib>LIEHR, THOMAS</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular medicine reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>AL-ACHKAR, WALID</au><au>WAFA, ABDULSAMAD</au><au>ASSAAD, MANAR</au><au>EHLERS, CHRISTIAN</au><au>LIEHR, THOMAS</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7</atitle><jtitle>Molecular medicine reports</jtitle><addtitle>Mol Med Rep</addtitle><date>2013-05-01</date><risdate>2013</risdate><volume>7</volume><issue>5</issue><spage>1545</spage><epage>1548</epage><pages>1545-1548</pages><issn>1791-2997</issn><eissn>1791-3004</eissn><abstract>Small supernumerary marker chromosomes (sSMCs) are present in ~2.6×106 individuals worldwide. Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present study, we report on a female with mosaicism (45%) of a de novo sSMC derived from chromosome 7, in which the observed clinical signs do not correspond to comparable cases in the literature. She is clinically normal apart from problems in gender determination, a uterus without ovaries and an external penis, pointing overall towards an adrenogenital syndrome (AGS). 21-Hydroxylase deficiency (21-OHD) is the most common cause of AGS. A corresponding analysis for underlying mutations in the CYP21A2 gene revealed a homozygous mutation c.518T>A (p.Ile173Asn) inherited from both non-related parents. Overall, in this study, we report a unique case of female pseudohermaphroditism, classified as a simple virilization form of 21-OHD having an additional minute-shaped chromosome 7 [min(7)(:p11.1->q11.23:)]. Notably, AGS was due to a mutation in the CYP21A2 gene located on chromosome 6. This is a further example that detection of an sSMC does not always resolve the clinical case.</abstract><cop>Greece</cop><pub>D.A. Spandidos</pub><pmid>23450434</pmid><doi>10.3892/mmr.2013.1349</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| source | Spandidos Publications Journals; MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | 21-hydroxylase deficiency 46, XX Disorders of Sex Development - enzymology 46, XX Disorders of Sex Development - genetics Adrenal glands Adrenal Glands - diagnostic imaging Adrenal Glands - pathology Adult Age Base Sequence Child Child, Preschool Chromosome 6 Chromosome 7 Chromosome Banding Chromosomes Chromosomes, Human, Pair 7 - genetics congenital adrenal hyperplasia CYP21A2 gene Cytogenetic Analysis Cytogenetics Enzymes Exons - genetics Facies Female Genes Genetic Markers Genotype & phenotype Homozygote Humans Hydroxylase Infant, Newborn Male Middle Aged molecular cytogenetics Molecular Sequence Data Mosaicism Mutation Mutation - genetics Ovaries Patients Penis Pseudohermaphroditism Ring Chromosomes small supernumerary marker chromosome 7 Steroid 21-Hydroxylase - metabolism Supernumerary Tomography, X-Ray Computed Uterus |
| title | A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7 |
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