Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report
Abstract Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome. Case...
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| Format: | Article |
| Language: | English |
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BMC
2021-04-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-021-02738-0 |
| _version_ | 1818956654012530688 |
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| author | Stephanie Farah Dana El Masri Kamal Hirbli |
| author_facet | Stephanie Farah Dana El Masri Kamal Hirbli |
| author_sort | Stephanie Farah |
| collection | DOAJ |
| description | Abstract Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome. Case presentation A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-Müllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy. Conclusion Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical. |
| first_indexed | 2024-12-20T10:57:23Z |
| format | Article |
| id | doaj.art-a0f9f949421645418560ab02887068dc |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-20T10:57:23Z |
| publishDate | 2021-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-a0f9f949421645418560ab02887068dc2022-12-21T19:43:07ZengBMCJournal of Medical Case Reports1752-19472021-04-011511410.1186/s13256-021-02738-0Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case reportStephanie Farah0Dana El Masri1Kamal Hirbli2Department of Endocrinology, Diabetes and Metabolism. Lebanese, American University Medical Center, LAUMCRHDepartment of Endocrinology, Diabetes and Metabolism. Lebanese, American University Medical Center, LAUMCRHDepartment of Endocrinology, Diabetes and Metabolism. Lebanese, American University Medical Center, LAUMCRHAbstract Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome. Case presentation A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-Müllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy. Conclusion Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical.https://doi.org/10.1186/s13256-021-02738-0Androgen insensitivity syndromeAmenorrheaInguinal herniaCase report |
| spellingShingle | Stephanie Farah Dana El Masri Kamal Hirbli Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report Journal of Medical Case Reports Androgen insensitivity syndrome Amenorrhea Inguinal hernia Case report |
| title | Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report |
| title_full | Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report |
| title_fullStr | Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report |
| title_full_unstemmed | Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report |
| title_short | Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report |
| title_sort | complete androgen insensitivity syndrome in a 13 year old lebanese child reared as female with bilateral inguinal hernia a case report |
| topic | Androgen insensitivity syndrome Amenorrhea Inguinal hernia Case report |
| url | https://doi.org/10.1186/s13256-021-02738-0 |
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