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Familial Ovarian Failure

  • Chapter
Perimenopause

Part of the book series: Serono Symposia USA ((SERONOSYMP))

Abstract

Premature ovarian failure (POF), generally defined as the cessation of menses prior to the age of 40 years, afflicts approximately 1% of women (1). Many classifications of POF have been proposed, and despite differences in nomenclature it is logical to divide patients into those with normal sex chromosomes and those who demonstrate abnormal chromosomal complements. Terms such as gonadal dysgenesis and Turner syndrome are commonly used to describe patients with a 45,X cell line (either singly or more commonly in a mosaic form) and delayed puberty due to ovarian failure (2, 3). Strictly speaking, gonadal dysgenesis usually refers to the presence of streak gonads regardless of the karyotype. Confusion may often result, though, when some Turner patients undergo normal puberty, and occasionally even achieve pregnancy, or when patients with 46,XX and 46,XY “gonadal dysgenesis” have normal chromosomes. On the other hand, POF often connotes a woman with normal chromosomes who underwent normal puberty and perhaps pregnancy, but now presents with secondary amenorrhea due to ovarian failure (4). Because ovarian failure may wax and wane, hypergonadotropic amenorrhea has sometimes been used to describe this entity (5).

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  1. Lawrence C. Layman
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  1. Department of Obstetrics and Gynecology College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA

    Rogerio A. Lobo M.D.

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Layman, L.C. (1997). Familial Ovarian Failure. In: Lobo, R.A. (eds) Perimenopause. Serono Symposia USA. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-2288-0_6

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  • DOI: https://doi.org/10.1007/978-1-4612-2288-0_6

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