The Patient with Turner Syndrome: Puberty and Medical Management Concerns

In Turner Syndrome (TS), which affects approximately 1 in 2,500 live-born females, involvement of a multidisciplinary team is beneficial for the specific aspects of endocrine and cardiac management.

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Authors

Luisa Gonzalez, M.D. and Selma Feldman Witchel, M.D.

Vol 98, Issue 4, Pages 780-786

Abstract

Turner Syndrome (TS) affects approximately 1 in 2,500 liveborn females and is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infertility. Endocrine therapies can include growth hormone, estrogen, and progestagen to promote linear growth and pubertal development. The duration of estrogen and progestagen treatment (HRT) is generally more than 40 years.

There is not one standard HRT protocol that is suitable for all women. Thus, general guidelines are provided for HRT to induce pubertal development. Additional considerations regarding choice of HRT include thrombotic risk and disorders associated with thrombophila. Involvement of cardiologists is important because approximately 50% of patients with TS have congenital structural cardiac anomalies linked to an increased risk for aortic dissection and rupture. Although oocyte donation offers the chance to carry a pregnancy, accumulating information has highlighted the potential dangers associated with pregnancy.

Advances in the care of infants, girls, and women with TS have been achieved. Management of infants, girls, and women with TS involves coordinated care from a multi-disciplinary team, including endocrinologists, cardiologists, geneticists, otolaryngologists, behavioral health experts, nurse educators, and social workers.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)01840-7/fulltext


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Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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