Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report
| Autor: | Kamal Hirbli, Stephanie Farah, Dana El Masri |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
Adolescent Physiology Hernia Inguinal Case Report 030209 endocrinology & metabolism 03 medical and health sciences 0302 clinical medicine Complete androgen insensitivity syndrome 030225 pediatrics medicine Humans Child Amenorrhea Androgen insensitivity syndrome Testosterone business.industry Inguinal hernia Exons General Medicine Androgen-Insensitivity Syndrome medicine.disease Androgen receptor medicine.anatomical_structure Karyotyping Mutation Vagina Medicine Hormonal therapy Female medicine.symptom business |
| Zdroj: | Journal of Medical Case Reports Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-4 (2021) |
| ISSN: | 1752-1947 |
| DOI: | 10.1186/s13256-021-02738-0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink