| Gonadal and müllerian duct agenesis in a girl with 46,X,i(Xq). | |
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MedLine Citation:
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PMID: 6700887 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A unique case of gonadal agenesis and rudimentary müllerian duct development in association with a 46,X,i(Xq) karyotype is reported. The patient presented with short stature and subtle features of Turner syndrome. Endocrine evaluation revealed elevated gonadotropins and cytogenetic findings from both peripheral blood leukocytes and skin fibroblasts were consistent with a 46,X,i(Xq) karyotype. Laparoscopy revealed both uterus and gonads to be absent. Developmental failure of the müllerian system in association with gonadal agenesis in a patient with 46,X,i(Xq) has not been previously reported. The basis for müllerian duct regression in this patient remains unclear. Recommendations for treatment are made. |
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Authors:
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F D De Leon; J H Hersh; J S Sanfilippo; K N Schikler; F F Yen |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Obstetrics and gynecology Volume: 63 ISSN: 0029-7844 ISO Abbreviation: Obstet Gynecol Publication Date: 1984 Mar |
Date Detail:
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Created Date: 1984-03-27 Completed Date: 1984-03-27 Revised Date: 2009-10-26 |
Medline Journal Info:
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Nlm Unique ID: 0401101 Medline TA: Obstet Gynecol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 81S-83S Citation Subset: AIM; IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cervix Uteri
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abnormalities Child Female Gonadal Dysgenesis / diagnosis*, genetics, pathology Humans Karyotyping Mullerian Ducts / pathology* Sex Chromosome Aberrations / diagnosis* Turner Syndrome / diagnosis* Uterus / abnormalities X Chromosome* |
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