Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve.A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy type 2 (MD2), 12 females with facioscapulohumeral muscular dystrophy (FSHD), 12 female carriers of Duchenne muscular dystrophy mutations (cDMD) and 86 age-matched healthy controls of reproductive age (range 18 - 44 years) were included in this case control study. An enzymatically amplified 2-site immunoassay was used to measure serum AMH level.The MD1 group shows a significant decrease of AMH values (median 0.7 ng/mL; range 0 - 4.9 ng/mL) compared with age-matched healthy controls (P < .01). AMH levels were similar between patients and controls in terms of females with MD2 (P = .98), FSHD (P = .55) and cDMD (P = .60).This study suggests decreased ovarian reserve in women with MD1, but not in MD2, FSHD and cDMD.

Department of Clinical Biochemistry University Hospital Brno

Department of Neurology 2nd Faculty of Medicine Charles University Prague and University Hospital Motol Prague European Reference Network on Rare Neuromuscular Diseases Czechia

Department of Neurology University Hospital Brno

Department of Neurology University Hospital Brno Faculty of Medicine Masaryk University Brno

Department of Neurology University Hospital Brno Faculty of Medicine Masaryk University Brno CEITEC Central European Institute of Technology Masaryk University Brno European Reference Network on Rare Neuromuscular Diseases Czechia

Department of Neurology University Hospital Brno Faculty of Medicine Masaryk University Brno European Reference Network on Rare Neuromuscular Diseases Czechia

Department of Paediatric Neurology Masaryk University and University Hospital Brno European Reference Network on Rare Neuromuscular Diseases Czechia

Faculty of Medicine Masaryk University Brno Department of Obstetrics and Gynaecology University Hospital Brno

Faculty of Medicine Masaryk University Brno Department of Paediatric Neurology Masaryk University and University Hospital Brno European Reference Network on Rare Neuromuscular Diseases Czechia

Institute of Biostatistics and Analyses Masaryk University Brno Czech Republic

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$a Anti-Müllerian hormone as an ovarian reserve marker in women with the most frequent muscular dystrophies / $c O. Parmova, E. Vlckova, M. Hulova, L. Mensova, I. Crha, P. Stradalova, E. Kralickova, L. Jurikova, M. Podborska, R. Mazanec, L. Dusek, J. Jarkovsky, J. Bednarik, S. Vohanka, I. Srotova,

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$a Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve.A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy type 2 (MD2), 12 females with facioscapulohumeral muscular dystrophy (FSHD), 12 female carriers of Duchenne muscular dystrophy mutations (cDMD) and 86 age-matched healthy controls of reproductive age (range 18 - 44 years) were included in this case control study. An enzymatically amplified 2-site immunoassay was used to measure serum AMH level.The MD1 group shows a significant decrease of AMH values (median 0.7 ng/mL; range 0 - 4.9 ng/mL) compared with age-matched healthy controls (P < .01). AMH levels were similar between patients and controls in terms of females with MD2 (P = .98), FSHD (P = .55) and cDMD (P = .60).This study suggests decreased ovarian reserve in women with MD1, but not in MD2, FSHD and cDMD.

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