AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.060 AlteredExpression disease BEFREE Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. 30088853 2018
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.060 Biomarker disease BEFREE AMH can be used as a marker of sertoli/granulosa cell tumors and primary ovarian insufficiency in girls with delayed puberty, Turner Syndrome and after treatment with gonadotoxic agents. 28613046 2017
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.060 GeneticVariation disease BEFREE Testosterone, inhibin B and AMH are usually low indicating a partial (or sometimes progressive) form of gonadal dysgenesis in most cases. 20595937 2010
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.060 AlteredExpression disease BEFREE We speculate that the absence of a second X chromosome leads to over-expression of MIS that may be co-responsible for failure of ovarian differentiation in TS. 19940443 2009
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.060 Biomarker disease BEFREE In the second child, T, AMH, and inhibin B were low, suggesting gonadal dysgenesis. 17488792 2007
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.060 AlteredExpression disease BEFREE In conclusion, secretion of AMH is a constitutive feature of the immature Sertoli cell and its expression is altered only by mutations of the AMH gene, but not by gonadal dysgenesis. 8623936 1996