Margot Wyrwoll Research Group

Research in a Nutshell

Male infertility is a common condition affecting about 7% of men. In some cases, there are no sperm in the semen, a condition called azoospermia. When this occurs, assisted reproduction methods such as in vitro fertilisation (IVF) cannot be used.

Some men with azoospermia undergo a testicular biopsy to look for sperm directly in the testes. About half of these procedures are successful, allowing sperm to be used for assisted reproduction. In the other half, sperm production within the testes is severely impaired. This is known as non-obstructive azoospermia (NOA), and men with NOA currently have no option for biological fatherhood.

My research focuses on uncovering the genetic causes of NOA and understanding how these genetic changes disrupt sperm production. Genetic testing can already help predict whether sperm retrieval is likely to succeed before surgery, allowing men to make informed decisions. However, the accuracy of these predictions remains limited for many genes. The long-term goal of my work as a clinician-scientist is to improve these prediction models and, ultimately, patient care.

1. Wyrwoll MJ, van der Heijden GW, Krausz C, Aston KI, Kliesch S, McLachlan R, Ramos L, Conrad DF, O'Bryan MK, Veltman JA, Tüttelmann F. Improved phenotypic classification of male infertility to promote discovery of genetic causes. Nat Rev Urol, 21(2):91-101 (2024)
2. Sieper, MH, Gaikwad, AS, Fros, M, Weber, P, Di Persio, S, Oud, MS, Kliesch, S, Neuhaus, N, Stallmeyer, B, Tüttelmann, F, Wyrwoll MJ. Scrutinizing the human TEX genes in the context of human male infertility. Andrology, 12(3):570-584 (2024)
3. Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F. Genetic Architecture of Azoospermia- Time to Advance the Standard of Care. Eur Urol, 83(5):452-462 (2023)
4. Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium; D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW. The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable or control of meiotic LINE-1 expression in humans. Am J Hum Genet, 109(10):1850-1866 (2022)
5. Wyrwoll MJ, Temel ŞG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N; GEMINI Consortium; Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann F. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Am J Hum Genet, 107(2):342-351 (2020)

Full publication list can be found on Scopus: Wyrwoll, Margot Julia - Author details - Scopus

• Professor Joris Veltman, The University of Edinburgh, UK
• Professor Frank Tüttelmann, University of Münster, Germany
• Dr Godfried van der Heijden, Radboud UMC, The Netherlands
• Professor Sabine Kliesch, University of Münster, Germany
• Professor Donald Conrad, Oregon Health & Science University, USA
• Dr Paulo Navarro-Costa, University of Lisbon, Portugal

• German Research Foundation (DFG)
• College of Medicine and Veterinary Medicine, University of Edinburgh