Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome
Abstract Background DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs), involved in spermatogenesis, are l...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMC
2025-10-01
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| Serier: | BMC Endocrine Disorders |
| Fag: | |
| Online adgang: | https://doi.org/10.1186/s12902-025-02060-6 |
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