Two fertile Turner women in a family

Ayuso, Carmen; Bello, Ma José; Benı́tez, Javier; Sanchezcascos, A; Mendoza, Gladys Lado

doi:10.1111/j.1399-0004.1984.tb01109.x

Cited by 19 publications

(4 citation statements)

References 9 publications

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“…Danish researchers detected chromosome anomalies in 6 of 26 babies born from mothers with mosaic TS [17]. Similarly, a woman with a mosaic TS karyotype delivered 6 term births and only one baby was diagnosed with TS [18]. In our patients, only 2 babies from 18 term babies underwent a chromosome analysis and were found to be normal.…”

Section: Discussionsupporting

confidence: 46%

A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

Güngör¹,

Güngör²,

Kavrut³

et al. 2021

Clinical and Experimental Obstetrics & Gynecology

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Background: Although pregnancy is reported in both classical and mosaic forms of Turner syndrome (TS), both spontaneous and invitro-fertilisation (IVF) success rates were found higher in mosaic cases. In this study we analysed homologous intracytoplasmic sperm injection cycle results of infertile patients diagnosed with mosaic TS. Methods: Ninety nine female patients who had infertility complaints for 2 years or more and were diagnosed with mosaic TS were included in the study. They were treated according to a standard antagonist protocol. Embryo transfer was performed after pre-implantation genetic diagnosis (PGD) in 53 cases while embryo transfer was performed in remaining 46 cases without PGD. Results: While 45,X/46,XX karyotype was found in 55 of 99 cases, 45,X/46,XX/47,XXX karyotype was found in 32 cases. The remaining participants consisted of rare karyotype forms. The total number of patients conceived after the antagonist protocol was 31 (31.3%). While 18 of these cases resulted in term delivery (58%), the remaining 13 cases resulted in miscarriage (41.9%). Pregnancy could not be obtained in only 2 cases whose karyotype were 45,X/47,XXX and 45,X/46,XX/46,XY. Karyotype analysis was performed in only 2 of 18 newborn babies due to suspicious physical findings, but the results were reported as normal. Discussion: On the basis of our observations in this largest mosaic TS series, homologous IVF should be considered in infertile patients with Turner syndrome with high-grade mosaicism. PGD should also be recommended to TS patients on IVF treatment.

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Section: Discussionsupporting

confidence: 46%

A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

Güngör¹,

Güngör²,

Kavrut³

et al. 2021

Clinical and Experimental Obstetrics & Gynecology

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“…Most concern a partial deletion of Xp (Fitzgerald et al 1984). Ayuso et al (1984) explained that normal ovarian function could occur in these patients if there was a secondary cell line containing a normal X chromosome or a structural rearrangement that did not involve the "critical region". The critical region for normal ovarian function lies on the proximal part (Xcen-Xp11) of the short arm (Wyss et al 1992, Therman & Susman 1990.…”

Section: Discussionmentioning

confidence: 99%

“…The actual chromosomal anomaly was discovered by Ford (1959). Since that time, fertility has been described in women with both mosaic (Reyes et al 1976, Nielsen et al 1995, Fitzgerald et al 1984, Ayuso et al 1984, and non-mosaic Turner syndrome (Reyes et al 1976, King et al 1978, Baudier et al 1985, Varela et al 1991, including those with a structural rather than numerical X-chromosomal abnbrmality (Fryns et al 1982, Fitzgerald et al 1984, Fryns et al 1988). Premature menopause (Fitzgerald et al 1984), and an increased risk of miscarriage and abnormal offspring (Reyes et al 1979, King et al 1978 have also been reported.…”

mentioning

confidence: 99%

Turner syndrome in a mother and daughter: r(X) and fertility

Blumenthal

Allanson

1997

Clinical Genetics

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A patient with mosaic Turner syndrome and normal fertility had three documented pregnancies. She had a 45,X/46,X,r(X) karyotype and did not undergo spontaneous sexual maturation and menarche. Conception occurred while on hormone replacement therapy. Her first pregnancy ended with the birth of a normal 46,XY male, while the third pregnancy resulted in a healthy 45,X/46,X,r(X) female. A review of the literature reveals a myriad of theories to account for the variability of ovarian function in Turner syndrome, but, as yet, there are insufficient data to yield any conclusions. There appears to be an increased risk of trisomy 21 in the offspring of females with Turner syndrome.

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“…Spontaneous puberty seems to appear in 10 to 20 % of the patients with Turner syndrome, but less than 5 % of these patients have spontaneous periods [10,11]. Spontaneous pregnancy can occur in 2 to 5 % of cases, especially when the syndrome is associated with a high degree of mosaicism [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Pregnancies and obstetrical prognosis after oocyte donation in Turner Syndrome: A multicentric study

Andre¹,

Pimentel²,

Veau³

et al. 2019

European Journal of Obstetrics & Gynecology and Reproductiv

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Two fertile Turner women in a family

Abstract: Two fertile women, mother and daughter, both presenting sex chromosomal mosaicism (45, X/46, XX/47, XXX and 45, X/46, Xr(X)) are reported. The mechanisms through which a Turner woman can eventually be fertile are discussed.

Cited by 19 publications

References 9 publications

A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

Turner syndrome in a mother and daughter: r(X) and fertility

Pregnancies and obstetrical prognosis after oocyte donation in Turner Syndrome: A multicentric study

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