Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins

Livadas, Sarantis; Xekouki, Paraskevi; Kafiri, Georgia; Voutetakis, Antonis; Maniati-Christidi, Maria; Dacou-Voutetakis, Catherine

doi:10.1016/j.fertnstert.2004.11.007

Cited by 28 publications

(11 citation statements)

References 22 publications

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“…Indeed, the widely quoted high rate of ∼7% reported in Birkebaek et al [82] included women with less than 10% abnormal cells, so the diagnosis of TS is somewhat doubtful. Nevertheless, pregnancy does occur in a small number of women with TS, including some with apparent non-mosaic 45,X karyotypes [83], or mosaic for 45,X/46,XY [84] and some that had elevated gonadotropins and been on HRT [71,85]. The number of such pregnancies is too small and scattered to allow accurate statistical assessment of risk and outcome, but case reports suggest an increased risk for miscarriage and hypertension and aortic dissection for the mother [71].…”

Section: Pregnancy In Tsmentioning

confidence: 99%

New Issues in the Diagnosis and Management of Turner Syndrome

Bondy

2005

Rev Endocr Metab Disord

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This review has tried to update our view of TS, highlighting the less severe phenotype we are seeing today, aiming to motivate clinicians to scrutinize normal looking short girls more closely, and to provide more relevant information for those counseling prospective parents on the implications of a TS karyotype during prenatal screening. New approaches to cardiac evaluation, including imaging with MR and ECG analysis-were suggested to strengthen our ability to detect and prevent potentially life-threatening cardiac complications. The new emphasis on reproductive potential and concerns about the adequacy and safety of current HRT regimens certainly require further studies and adjustment of treatment strategies in light of new priorities and safety concerns. In the same vein, prospective studies are required to assess the outcome and safety of assisted pregnancy in TS, which, despite the warning ofa potential catastrophic increase in maternal morbidity is going to become a much more common occurrence in the near future.

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Section: Pregnancy In Tsmentioning

confidence: 99%

New Issues in the Diagnosis and Management of Turner Syndrome

Bondy

2005

Rev Endocr Metab Disord

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“…Furthermore, women with TS are mostly infertile due to ovarian dysgenesis or degeneration associated with early follicular apoptosis [Gravholt, 2005]. However, in about 2-7% of cases, spontaneous pregnancy does occur [Livadas et al, 2005], accompanied with higher risk of miscarriage or birth defects. There are modern reproductive technologies, including donor egg use that can aid TS patients in becoming pregnant.…”

Section: Resultsmentioning

confidence: 99%

Analysis of Turner Syndrome Patients within the Jordanian Population, with a Focus on Four Patients with Y Chromosome Abnormalities

Daggag¹,

Srour²,

El‐Khateeb³

et al. 2013

Sex Dev

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This study presents findings in Turner syndrome (TS) patients from the Jordanian population, with focus on 4 patients with Y chromosomal abnormalities. From 1989 to 2011, 504 patients with TS stigmata were referred to our institute for karyotyping, resulting in 142 positive TS cases. Of these, 62 (43.7%) had the typical 45,X karyotype and the remaining individuals (56.3%) were found to be mosaics. Fifteen TS patients (10.5%) carried a structural abnormality of the Y chromosome and presented with the mosaic 45,X/46,XY karyotype. From these, 4 TS cases were investigated further. Karyotyping revealed that 1 patient carried a small supernumerary marker chromosome, whereas cytogenetic and molecular analyses showed that 3 patients carried 2 copies of the SRY gene. Further analysis by SRY sequencing revealed no mutations within the gene. The analyzed patients were found to be phenotypically either females or males, depending on the predominance of the cell line carrying the Y chromosome. This study demonstrates the importance of detailed cytogenetic analysis (such as FISH) in TS patients, and it also emphasizes the need for molecular analysis (such as PCR and sequencing) when fragments of the Y chromosome are present.

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“…1 There have been many reports of spontaneous pregnancy in Turner's syndrome, more commonly in the mosaic rather than the non-mosaic forms of the condition. [4][5][6][7][8][9][10][11][12][13][14] The prevalence is estimated at 2-7.6%. 1,4 Natural pregnancies have been reported in amenorrhoeic women with Turner's who were receiving HRT, and in those with raised gonadotrophin levels.…”

Section: Discussionmentioning

confidence: 99%

“…1,4 Natural pregnancies have been reported in amenorrhoeic women with Turner's who were receiving HRT, and in those with raised gonadotrophin levels. 1,5,6,8 In those in whom the degree of infertility has not been established there may be a need for contraceptive advice. 5 The COC would seem a reasonable choice given the increased risk of osteoporosis in these patients; 5 however, the risk of hypertension in these may patients may be a relative contraindication to the COC.…”

Section: Discussionmentioning

confidence: 99%