A case of mild partial androgen insensitivity syndrome in a juvenile boy
Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and pre...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2024-03-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605241232520 |
| _version_ | 1827308294272712704 |
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| author | Fen Wang Shiying Shao Wentao He Shuhong Hu |
| author_facet | Fen Wang Shiying Shao Wentao He Shuhong Hu |
| author_sort | Fen Wang |
| collection | DOAJ |
| description | Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range. His bone age was approximately 13 years according to Greulich-Pyle assessment. Sequence analysis of the androgen receptor ( AR ) gene revealed a mutation (c.2041A>G) in exon 4, a novel mutation site in the AR gene. Prediction analysis suggested this to be a disease-causing variant. A milder clinical presentation and normal hormone levels in cases of partial AIS might differ from the usually reported signs and symptoms. A diagnosis of AIS should not be ignored in teenage patients who present with gynaecomastia and hypospadias, but normal hormone levels. |
| first_indexed | 2024-04-24T18:55:53Z |
| format | Article |
| id | doaj.art-15834a3d2d024c19973bb6eaa0a1d8c8 |
| institution | Directory Open Access Journal |
| issn | 1473-2300 |
| language | English |
| last_indexed | 2024-04-24T18:55:53Z |
| publishDate | 2024-03-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of International Medical Research |
| spelling | doaj.art-15834a3d2d024c19973bb6eaa0a1d8c82024-03-26T17:03:41ZengSAGE PublishingJournal of International Medical Research1473-23002024-03-015210.1177/03000605241232520A case of mild partial androgen insensitivity syndrome in a juvenile boyFen WangShiying ShaoWentao HeShuhong HuAndrogen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range. His bone age was approximately 13 years according to Greulich-Pyle assessment. Sequence analysis of the androgen receptor ( AR ) gene revealed a mutation (c.2041A>G) in exon 4, a novel mutation site in the AR gene. Prediction analysis suggested this to be a disease-causing variant. A milder clinical presentation and normal hormone levels in cases of partial AIS might differ from the usually reported signs and symptoms. A diagnosis of AIS should not be ignored in teenage patients who present with gynaecomastia and hypospadias, but normal hormone levels.https://doi.org/10.1177/03000605241232520 |
| spellingShingle | Fen Wang Shiying Shao Wentao He Shuhong Hu A case of mild partial androgen insensitivity syndrome in a juvenile boy Journal of International Medical Research |
| title | A case of mild partial androgen insensitivity syndrome in a juvenile boy |
| title_full | A case of mild partial androgen insensitivity syndrome in a juvenile boy |
| title_fullStr | A case of mild partial androgen insensitivity syndrome in a juvenile boy |
| title_full_unstemmed | A case of mild partial androgen insensitivity syndrome in a juvenile boy |
| title_short | A case of mild partial androgen insensitivity syndrome in a juvenile boy |
| title_sort | case of mild partial androgen insensitivity syndrome in a juvenile boy |
| url | https://doi.org/10.1177/03000605241232520 |
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