Familial true hermaphroditism : paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences
We report on 46,XX true hermaphroditism and 46,XX maleness coexisting in the same pedigree, with maternal as well as paternal transmission of the disorder. Molecular genetic analysis showed that both hermaphrodites as well as the 46,XX male were negative for Y-chromosomal sequences. Thus, this pedig...
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| Veröffentlicht in: | Human genetics 1993-12, Vol.92 (6), p.571-576 |
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| container_title | Human genetics |
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| creator | KUHNLE, U SCHWARZ, H. P LÖHRS, U STENGEL-RUTHKOWSKI, S CLEVE, H BRAUN, A |
| description | We report on 46,XX true hermaphroditism and 46,XX maleness coexisting in the same pedigree, with maternal as well as paternal transmission of the disorder. Molecular genetic analysis showed that both hermaphrodites as well as the 46,XX male were negative for Y-chromosomal sequences. Thus, this pedigree is highly informative and allows the following conclusions: first, the maternal as well as paternal transmission of the disorder allows the possibility of an autosomal dominant as well as an X-chromosomal dominant mode of inheritance; second, testicular determination in the absence of Y-specific sequences in familial 46,XX true hermaphrodites as well as in 46,XX males seems to be due to the varying expression of the same genetic defect; and third, there is incomplete penetrance of the defect. |
| doi_str_mv | 10.1007/BF00420941 |
| format | Article |
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Thus, this pedigree is highly informative and allows the following conclusions: first, the maternal as well as paternal transmission of the disorder allows the possibility of an autosomal dominant as well as an X-chromosomal dominant mode of inheritance; second, testicular determination in the absence of Y-specific sequences in familial 46,XX true hermaphrodites as well as in 46,XX males seems to be due to the varying expression of the same genetic defect; and third, there is incomplete penetrance of the defect.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00420941</identifier><identifier>PMID: 8262517</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adult ; Base Sequence ; Biological and medical sciences ; Disorders of Sex Development - genetics ; Electrophoresis, Agar Gel ; Female ; Gonadal Steroid Hormones - blood ; Gynecology. Andrology. Obstetrics ; hermaphroditism ; Humans ; Male ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. 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Thus, this pedigree is highly informative and allows the following conclusions: first, the maternal as well as paternal transmission of the disorder allows the possibility of an autosomal dominant as well as an X-chromosomal dominant mode of inheritance; second, testicular determination in the absence of Y-specific sequences in familial 46,XX true hermaphrodites as well as in 46,XX males seems to be due to the varying expression of the same genetic defect; and third, there is incomplete penetrance of the defect.</description><subject>Adult</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Disorders of Sex Development - genetics</subject><subject>Electrophoresis, Agar Gel</subject><subject>Female</subject><subject>Gonadal Steroid Hormones - blood</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>hermaphroditism</subject><subject>Humans</subject><subject>Male</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>man</subject><subject>Medical sciences</subject><subject>Molecular Biology</subject><subject>Molecular Sequence Data</subject><subject>Oligonucleotides</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Sex Chromosome Aberrations - genetics</subject><subject>Sex Determination Analysis</subject><subject>Testis - abnormalities</subject><subject>transmission</subject><subject>X Chromosome</subject><subject>Y Chromosome - chemistry</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU2LFDEQhoMo6-zqxbuQg8gqtlY-Oul408XZFRa8KIynJp2uMJH-GFM9B__L_tjNuON6ETyF8D5PhcrL2DMBbwWAffdxDaAlOC0esJXQSlZCgnrIVqA0VMYK-5idEv0AELWT9Qk7aaSRtbArdrP2YxqSH_iS98i3mEe_2-a5T0uikb_nO79gnkrup56Pfy5L9hONiSjNE5_jv-Vzbd5sNq9-m5tNkQeckIiniS9b5L4jnAIe9O9VKNo401wgTvhzf0joCXsU_UD49HiesW_rT18vrqrrL5efLz5cV0FpuVS9ELXCYCVg6GtQKvbQOQtRib7TskFjUNY-NE0MwaERCnsVrYbQyS56VGfs5d3cXZ7L07S0ZbWAw-AnnPfU2qIY58x_QWEa6ZxrCvj6Dgx5JsoY211Oo8-_WgHtobP2b2cFfn6cuu9G7O_RY0klf3HMPQU_xPL3IdE9phqra2vVLQYsoEQ</recordid><startdate>19931201</startdate><enddate>19931201</enddate><creator>KUHNLE, U</creator><creator>SCHWARZ, H. 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P ; LÖHRS, U ; STENGEL-RUTHKOWSKI, S ; CLEVE, H ; BRAUN, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-d1153ec720ecd5033fd0b970f31db428e66e25ac88fcc9e613ed3f740cb2bfae3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adult</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Disorders of Sex Development - genetics</topic><topic>Electrophoresis, Agar Gel</topic><topic>Female</topic><topic>Gonadal Steroid Hormones - blood</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>hermaphroditism</topic><topic>Humans</topic><topic>Male</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. 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Thus, this pedigree is highly informative and allows the following conclusions: first, the maternal as well as paternal transmission of the disorder allows the possibility of an autosomal dominant as well as an X-chromosomal dominant mode of inheritance; second, testicular determination in the absence of Y-specific sequences in familial 46,XX true hermaphrodites as well as in 46,XX males seems to be due to the varying expression of the same genetic defect; and third, there is incomplete penetrance of the defect.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>8262517</pmid><doi>10.1007/BF00420941</doi><tpages>6</tpages></addata></record> |
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| ispartof | Human genetics, 1993-12, Vol.92 (6), p.571-576 |
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| language | eng |
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| source | MEDLINE; SpringerNature Complete Journals |
| subjects | Adult Base Sequence Biological and medical sciences Disorders of Sex Development - genetics Electrophoresis, Agar Gel Female Gonadal Steroid Hormones - blood Gynecology. Andrology. Obstetrics hermaphroditism Humans Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance man Medical sciences Molecular Biology Molecular Sequence Data Oligonucleotides Pedigree Polymerase Chain Reaction Sex Chromosome Aberrations - genetics Sex Determination Analysis Testis - abnormalities transmission X Chromosome Y Chromosome - chemistry |
| title | Familial true hermaphroditism : paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences |
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