Complete androgen insensitivity syndrome: A rare case report
Androgen receptor gene mutations on Xq12, which also have a 46XY karyotype abnormality, are the root cause of the X-linked uncommon recessive disorder of sex development known as androgen insensitivity syndrome (AIS). Complete AIS existed as a female, with normal breast, no uterus, ovaries, and fall...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | National Journal of Clinical Anatomy |
| Subjects: | |
| Online Access: | http://www.njca.info/article.asp?issn=2277-4025;year=2022;volume=11;issue=4;spage=232;epage=235;aulast=Kambale |
| _version_ | 1811313049343098880 |
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| author | Tushar Kambale Payal Patel Yaminy Pradeep Ingale Charusheela Gore |
| author_facet | Tushar Kambale Payal Patel Yaminy Pradeep Ingale Charusheela Gore |
| author_sort | Tushar Kambale |
| collection | DOAJ |
| description | Androgen receptor gene mutations on Xq12, which also have a 46XY karyotype abnormality, are the root cause of the X-linked uncommon recessive disorder of sex development known as androgen insensitivity syndrome (AIS). Complete AIS existed as a female, with normal breast, no uterus, ovaries, and fallopian tube with a blind-ending vagina but the presence of bilateral undescended testis either in the inguinal canal, abdomen, or labioscrotal junction and elevated testosterone levels. This was a rare case of a 22-year-old female patient who presented with primary amenorrhea. Ultrasonography showed gonads in the mid parts of inguinal canals on both sides, reaching up to the superficial ring. On investigation, increased in level of serum testosterone, follicle-stimulating hormone along with the luteinizing hormone was seen. AIS is actually very disturbing to individuals and families, so close collaboration between radiologist, pathologist, treating consultants, and psychiatrists are required for the proper management. |
| first_indexed | 2024-04-13T10:47:23Z |
| format | Article |
| id | doaj.art-e78bb4ec385f4a81b68dce983c8ff617 |
| institution | Directory Open Access Journal |
| issn | 2277-4025 2321-2780 |
| language | English |
| last_indexed | 2024-04-13T10:47:23Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | National Journal of Clinical Anatomy |
| spelling | doaj.art-e78bb4ec385f4a81b68dce983c8ff6172022-12-22T02:49:46ZengWolters Kluwer Medknow PublicationsNational Journal of Clinical Anatomy2277-40252321-27802022-01-0111423223510.4103/NJCA.NJCA_144_22Complete androgen insensitivity syndrome: A rare case reportTushar KambalePayal PatelYaminy Pradeep IngaleCharusheela GoreAndrogen receptor gene mutations on Xq12, which also have a 46XY karyotype abnormality, are the root cause of the X-linked uncommon recessive disorder of sex development known as androgen insensitivity syndrome (AIS). Complete AIS existed as a female, with normal breast, no uterus, ovaries, and fallopian tube with a blind-ending vagina but the presence of bilateral undescended testis either in the inguinal canal, abdomen, or labioscrotal junction and elevated testosterone levels. This was a rare case of a 22-year-old female patient who presented with primary amenorrhea. Ultrasonography showed gonads in the mid parts of inguinal canals on both sides, reaching up to the superficial ring. On investigation, increased in level of serum testosterone, follicle-stimulating hormone along with the luteinizing hormone was seen. AIS is actually very disturbing to individuals and families, so close collaboration between radiologist, pathologist, treating consultants, and psychiatrists are required for the proper management.http://www.njca.info/article.asp?issn=2277-4025;year=2022;volume=11;issue=4;spage=232;epage=235;aulast=Kambalecomplete androgen insensitivity syndromegonadspuberty |
| spellingShingle | Tushar Kambale Payal Patel Yaminy Pradeep Ingale Charusheela Gore Complete androgen insensitivity syndrome: A rare case report National Journal of Clinical Anatomy complete androgen insensitivity syndrome gonads puberty |
| title | Complete androgen insensitivity syndrome: A rare case report |
| title_full | Complete androgen insensitivity syndrome: A rare case report |
| title_fullStr | Complete androgen insensitivity syndrome: A rare case report |
| title_full_unstemmed | Complete androgen insensitivity syndrome: A rare case report |
| title_short | Complete androgen insensitivity syndrome: A rare case report |
| title_sort | complete androgen insensitivity syndrome a rare case report |
| topic | complete androgen insensitivity syndrome gonads puberty |
| url | http://www.njca.info/article.asp?issn=2277-4025;year=2022;volume=11;issue=4;spage=232;epage=235;aulast=Kambale |
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