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Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services

MJ Schleedoorn, Kathrin Fleischer, D.D.M. Braat, AJM Oerlemans, AAEM van der Velden, Ronald Peek

2022Reproductive Biology and Endocrinology19 citationsDOIOpen Access PDF

Abstract

In this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy and an unmeasurable anti-müllerian hormone serum level. We compare our results with previous research, highlight the challenges we faced in this case and provide recommendations for daily practice. Hereby, we demonstrate that excluding certain subgroups of Turner Syndrome patients (e.g. monosomy patients, and/or girls with an anti-müllerian hormone level below 2.0 ng/l) may be premature, especially based on the current state of published research data. This practical example of a challenging dilemma in the counselling of Turner Syndrome patients for fertility preservation is of interest for clinicians involved in fertility counselling and Turner Syndrome care.

Topics & Concepts

FertilityTurner syndromeFertility preservationReproductive medicineGynecologyMedicineBiologyGeneticsPregnancyEndocrinologyPopulationEnvironmental healthGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesReproductive Biology and FertilityPrenatal Screening and Diagnostics
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