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Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)

Lang-Muritano, Mariarosaria ; Sproll, Patrick ; Wyss, Sascha ; Kolly, Anne ; Hürlimann, Renate ; Konrad, Daniel ; Biason-Lauber, Anna

In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748-3756

Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor β (esr2)

Lang-Muritano, Mariarosaria ; Sproll, Patrick ; Wyss, Sascha ; Kolly, Anne ; Hürlimann, Renate ; Konrad, Daniel ; Biason-Lauber, Anna

In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748–3756

Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic...