A rare cause for primary amenorrhoea
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s syndrome. Perrault syndrome is a rare autosom...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Journal of Human Reproductive Sciences |
| Subjects: | |
| Online Access: | http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2012;volume=5;issue=2;spage=218;epage=220;aulast=Noorul |
| _version_ | 1819024280674893824 |
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| author | Kaderthambi Hajamohideen Noorul Ameen Rakesh Pinninti |
| author_facet | Kaderthambi Hajamohideen Noorul Ameen Rakesh Pinninti |
| author_sort | Kaderthambi Hajamohideen Noorul Ameen |
| collection | DOAJ |
| description | Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males; only females have gonadal dysgenesis associated with sensorineural deafness, which is present in both sexes. We present a case of sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined. |
| first_indexed | 2024-12-21T04:52:17Z |
| format | Article |
| id | doaj.art-d261e913707f49e88d40b83f63d39e27 |
| institution | Directory Open Access Journal |
| issn | 0974-1208 1998-4766 |
| language | English |
| last_indexed | 2024-12-21T04:52:17Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Human Reproductive Sciences |
| spelling | doaj.art-d261e913707f49e88d40b83f63d39e272022-12-21T19:15:24ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662012-01-015221822010.4103/0974-1208.101026A rare cause for primary amenorrhoeaKaderthambi Hajamohideen Noorul AmeenRakesh PinnintiGonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males; only females have gonadal dysgenesis associated with sensorineural deafness, which is present in both sexes. We present a case of sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined.http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2012;volume=5;issue=2;spage=218;epage=220;aulast=NoorulDeafnesskaryotypemarfanoid habitusovarian dysgenesisPerrault′s syndrome |
| spellingShingle | Kaderthambi Hajamohideen Noorul Ameen Rakesh Pinninti A rare cause for primary amenorrhoea Journal of Human Reproductive Sciences Deafness karyotype marfanoid habitus ovarian dysgenesis Perrault′s syndrome |
| title | A rare cause for primary amenorrhoea |
| title_full | A rare cause for primary amenorrhoea |
| title_fullStr | A rare cause for primary amenorrhoea |
| title_full_unstemmed | A rare cause for primary amenorrhoea |
| title_short | A rare cause for primary amenorrhoea |
| title_sort | rare cause for primary amenorrhoea |
| topic | Deafness karyotype marfanoid habitus ovarian dysgenesis Perrault′s syndrome |
| url | http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2012;volume=5;issue=2;spage=218;epage=220;aulast=Noorul |
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