A Case of 46 , X , del(X)(q21) Pure Gonadal Dysgenesis Which has got Pregnant by Ovum Donation.

Nam, Y S; Lee, S H; Kwak, I P; Yoon, T K; Yoon, K Y

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Obstet Gynecol Sci > Volume 41(7); 1998 > Article

Case Report

Korean Journal of Obstetrics & Gynecology 1998;41(7):1998-2000.
Published online: January 1, 2001

A Case of 46 , X , del(X)(q21) Pure Gonadal Dysgenesis Which has got Pregnant by Ovum Donation.

Y S Nam, S H Lee, I P Kwak, T K Yoon, K Y Yoon

Abstract

Gonadal dysgenesis represents a wide spectrum of clinical phenotypes, gonadal structures that include the presence of at least one streak gonad and a variety of X chromosome abnormalities and mosaicism. Turner`s syndrome is the best-known form of gonadal dysgenesis. The eponym should probably be restricted to those patients with the phenotype described by Turner: streak gonads or hypoplastic ovaries and an absent or abnormal X chromosome. Turner`s syndrome occurs in 1 in 3,000 live female births. Approximately 98% to 99% of pregnancies with Turner`s syndrome abort spontaneously and approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner`s syndrome. Pure gonadal dysgenesis is a term applied to a heterogenous group of disorders in phenotypic females with either XX or XY karyotypes, normal genitalia, normal mullerian duct development, bilateral streak gonads, absent or poorly developed secondary sexual development, and primary amenorrhea. In order to make an accurate diagnosis, the bilateral streak gonad must be verified histologically and karyotyping must be performed. We have experienced a case of 46,X,del(X)(q21) pure gonadal dysgenesis which has got pregnant by ovum donation. So we report this case with a brief review of literatures.

Keywords: Pure gonadal dysgenesis; Ovum donation

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