Turner syndrome is a genetic disorder (inherited disease) in which there is a loss of an X chromosome or a restriction of its function. In Turner syndrome, the decision about fertility preserving methods can only be made based on various aspects of a patient’s individual situation. There are also questions that cannot be answered or answered only inadequately by studies at present.

The decision for or against fertility preservation should not only be based on the one-time measurement of the AMH level, but should take into account the AMH level during the course, the individual findings of the genetic examination as well as the maternal risks during pregnancy. The following points summarize some relevant aspects:

– Fertility-preserving intervention is only useful if the health of the woman with Turner syndrome allows a subsequent pregnancy.
– It is important to distinguish between Turner syndrome with a monosomy versus a mosaic or structural abnormality (aberration). Regardless, the presence of ovarian function must be considered.
– In the case of a normal ovarian reserve, it may be possible to wait with regular check-ups.
One way to facilitate the patient’s decision after the consultation regarding fertility preserving methods is the “Decision Aid” linked here.

It is a digital decision aid developed by psychologists, psychotherapists and reproductive physicians.

Detailed information and a bibliography can be found in the FertiPROTEKT booklet “Indikation und Durchführung fertilitätsprotektiver Maßnahmen bei onkologischen und nicht-onkologischen Erkrankungen”, 2nd revised edition 2020, which was written by members of the FertiPROTEKT Netzwerk e.V. and is available free of charge (in German).

(Chap. 2.12)

An english version can be bought: Fertility Preservation in Oncological and Non-Oncological Diseases a practical guide by Michael von Wolff & Frank Nawroth ISBN 978-3-030-47567-3 from Springer.com
Part II page 145ff