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. 2021 Jun 27;11(7):609. doi: 10.3390/jpm11070609

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© 2021 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Characterisation of the two genomic subtypes of ovarian failure. (A) Dendrogram analysis of both subtypes. Genomic profiles of subtypes A (red cluster, n = 17) and B (blue cluster, n = 101) obtained from unsupervised clustering were examined for the number of variants accumulated in each individual (represented in greyscale). Macrophage stimulating 1 like variant was found in four cases, all in the B subtype (black point in dendrogram). Mean decrease in impurity (MDI) scores assigned by the random forest algorithm was evaluated, and two genomic variants for dynein axonemal heavy chain 6 (DNAH6) and one for TraB domain containing 2A (TRABD2A) genes were the most characteristic of subtype A. Meanwhile, two variants for mucin 6 (MUC6) and one for aquaporin 8 (AQP8) were the most characteristic of subtype B (bottom). (B) Clinical comparison of subtypes A and B. Shapiro and Wilcoxon tests were applied to contrast the mean antral follicle counts (AFC) and levels of follicle-stimulating hormone (FSH) and anti-Müllerian hormone (AMH). No statistical differences were found.