Anti-Müllerian Hormone Deficiency and Resistance
| Autor: | Jean-Yves Picard, Richard L. Cate, Nathalie di Clemente, Nathalie Josso, Rodolfo Rey |
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| Rok vydání: | 2019 |
| Předmět: |
endocrine system
medicine.medical_specialty Fetus endocrine system diseases biology urogenital system business.industry Mullerian Ducts Uterus Anti-Müllerian hormone medicine.disease Sertoli cell female genital diseases and pregnancy complications Endocrinology medicine.anatomical_structure Internal medicine Chromosome 19 Persistent Müllerian duct syndrome medicine biology.protein business Chromosome 12 |
| Popis: | Anti-Mullerian hormone causes the regression of the Mullerian ducts in the male fetus. AMH is expressed at high levels by testicular Sertoli cells from early fetal life through puberty. The human AMH gene maps to chromosome 19. AMHR2 gene, encoding the AMH type 2 receptor, maps to chromosome 12. Mutations in either gene are responsible for the Persistent Mullerian Duct Syndrome (PMDS), characterized by the presence of the uterus and fallopian tubes in an otherwise normally virilized male. AMH is also a useful serum biomarker of testicular function in pediatric patients. |
| Databáze: | OpenAIRE |
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