A fertile woman with non‐mosaic Turner's syndrome. Case report and review of the literature

Swapp, G. H.; Johnston, Alan; Watt, Jessie L.; Couzin, D A; Stephen, G S

doi:10.1111/j.1471-0528.1989.tb03332.x

Cited by 49 publications

(26 citation statements)

References 19 publications

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“…A cutoff limit of >5% was used for definition of a low-grade mosaicism (7,8). In comparison with earlier studies (11,12), we found a higher frequency of spontaneous pregnancies, which might be explained by a greater percentage of patients with a true mosaicism. The mosaics were often diagnosed during infertility investigations or after recurrent miscarriages.…”

mentioning

confidence: 54%

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Pregnancy rate and outcome in Swedish women with Turner syndrome

Bryman

Sylvén

Berntorp

et al. 2011

Fertility and Sterility

138

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mentioning

confidence: 54%

“…There are reports on spontaneous pregnancies in women with TS with a 45,X karyotype (11,12) and even in a woman with Turner syndrome with an apparently intact Y chromosome (10). However, some studies imply predominance among women with a 45,X/46,XX mosaic karyotype (13,14).…”

mentioning

confidence: 91%

Pregnancy rate and outcome in Swedish women with Turner syndrome

Bryman

Sylvén

Berntorp

et al. 2011

Fertility and Sterility

138

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“…The miscarriage rate was 29 of 66 (21). The possibility of meiotic nondisjunction in the oocytes of women with Turner's syndrome cannot be ignored, because chromosomal aberrations have been shown to be more common in children born after spontaneous pregnancies in these women (22,23). This must be taken into account when counseling such women.…”

Section: Discussionmentioning

confidence: 95%

Follicles Are Found in the Ovaries of Adolescent Girls with Turner’s Syndrome

Hreinsson¹,

Otala

Fridström³

et al. 2002

The Journal of Clinical Endocrinology &Amp; Metabolism

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Infertility caused by ovarian failure is a characteristic feature in Turner's syndrome. Spontaneous pregnancies are seen in 2-5% of these women, and up to 30% have at least some pubertal development, indicating the presence of follicles in their ovaries in adolescence. It has not been clear at which age the follicles disappear. We analyzed the numbers and densities of follicles in ovarian cortical tissue from nine adolescent girls with Turner's syndrome who came to our clinics after having been informed about the study, with an aim to preserve ovarian tissue for possible infertility treatment later in life. A quarter to one whole ovary was laparoscopically removed for the procedure. Follicles were seen in the biopsy tissue in eight of nine subjects from whom ovarian tissue was laparoscopically obtained, the highest numbers being seen in the youngest girls and in those with mosaicism. In one 17-yr-old girl, no ovarian tissue was found. Follicle density was correlated with serum levels of FSH; individuals with the lowest FSH levels had the highest follicle density. One to 190 follicles were counted in the approximately 0.1-2.0 mm(3) of tissue analyzed, giving a density of 1.5-499 follicles/mm(3) of ovarian cortical tissue. Girls up to the age of 17 had primordial follicles in their ovaries. Three girls, two aged 15 yr and one aged 19, had only secondary follicles, with many being atretic. Our finding that adolescent girls with Turner's syndrome still have follicles in their ovarian cortical tissue raises the possibility of future fertility through cryopreservation of ovarian tissue. However, before such procedures can be recommended for clinical management, it is essential that future studies be performed to determine whether the oocytes retrieved from girls with Turner's syndrome have a normal chromosomal complement.

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“…Researchers believe that miscarriages are due to fetal chromosomal abnormalities, mostly trisomy 21 and Turner syndrome, which have been observed in both aborted fetuses and live-born children of these patients at a much higher rate than in the general population (4 vs. 0.4% for trisomy 21 and 15 vs. 0.5% for Turner syndrome) (17)(18)(19). This increased risk of abnormalities and malformations leads some investigators to actively discourage unassisted pregnancy and even encourage egg donation (2,20).…”

Section: Discussionmentioning

confidence: 98%