Utility of exome sequencing in primary spermatogenic disorders: From research to diagnostics

Antoni and Liina’s review is now available online in Andrology. Congratulations! Abstract Background Primary spermatogenic disorders represent a severe form of male infertility whereby sperm production is impaired due to testicular dysfunction, leading to reduced quality or quantity of spermatozoa. Gene-centered research has certainly demonstrated the importance of the genetic factor in the etiology of […]

Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years

Arvand’s review with Dr. Maris Laan from the University of Tartu in Estonia is now available online in Andrology. This is article is part of a Special Issue of Andrology “Genetics in Andrology. Congratulations! Abstract Across six decades, androgenetics has consistently concentrated on discovering genetic causes and enhancing the molecular diagnostics of male infertility, disorders […]

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility

Helen’s paper with our Croatian collaborators in now available online in Human Molecular Genetics. Congratulations! Abstract The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription […]