Turner Syndrome

Stratakis, Constantine A.; Rennert, Owen M.

doi:10.1097/01.ten.0000152836.30636.a7

Cited by 9 publications

(4 citation statements)

References 102 publications

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“…Cytogenetically, it is characterized by complete (45,X) or partial monosomy of sexual chromosome X in some or all cells. The clinical features are short stature and gonadal dysgenesis (Stratakis and Rennert, 2005;Oliveira et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

C677T and A1298C Polymorphisms ofMTHFRGene and Their Relation to Homocysteine Levels in Turner Syndrome

Oliveira

Verreschi²,

Sugawara³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Section: Introductionmentioning

confidence: 99%

C677T and A1298C Polymorphisms ofMTHFRGene and Their Relation to Homocysteine Levels in Turner Syndrome

Oliveira

Verreschi²,

Sugawara³

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…Ninety-nine percentage of XO fetuses die in the womb, and TS girls who have been born develop short stature, congenital cardiovascular defects, and metabolic abnormalities. 64 65 In addition, most TS women are infertile due to the early loss of oocytes. 66 67 68 By contrast, XO female mice are viable, healthy, and fertile.…”

Section: Role Of Sex Chromosomes In Oogenesismentioning

confidence: 99%

The role of sex chromosomes in mammalian germ cell differentiation: can the germ cells carrying X and Y chromosomes differentiate into fertile oocytes?

Taketo

2015

Asian J Androl

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The sexual differentiation of germ cells into spermatozoa or oocytes is strictly regulated by their gonadal environment, testis or ovary, which is determined by the presence or absence of the Y chromosome, respectively. Hence, in normal mammalian development, male germ cells differentiate in the presence of X and Y chromosomes, and female germ cells do so in the presence of two X chromosomes. However, gonadal sex reversal occurs in humans as well as in other mammalian species, and the resultant XX males and XY females can lead healthy lives, except for a complete or partial loss of fertility. Germ cells carrying an abnormal set of sex chromosomes are efficiently eliminated by multilayered surveillance mechanisms in the testis, and also, though more variably, in the ovary. Studying the molecular basis for sex-specific responses to a set of sex chromosomes during gametogenesis will promote our understanding of meiotic processes contributing to the evolution of sex determining mechanisms. This review discusses the fate of germ cells carrying various sex chromosomal compositions in mouse models, the limitation of which may be overcome by recent successes in the differentiation of functional germ cells from embryonic stem cells under experimental conditions.

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“…Its incidence varies from 1 in 1800 to 1 in 5000 live births among girls (Lippe, 1991). The prevalence at birth is about 25-55 in 100,000 girls (Stratakis and Rennert, 2005).…”

Section: Introductionmentioning

confidence: 99%

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature

Figueiredo

Kochi²,

Longui³

et al. 2008

Genet. Mol. Res.

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AbSTRACT. Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age. Sixty-four short-stature girls were selected and the clinical data obtained were birth weight and height, weight and height at the first medical visit and target height. Other clinical data including cardiac and renal abnormalities, otitis, Hashimoto thyroiditis, cubitus valgus, short neck, widely separated nipples, and pigmented nevi were obtained from the patients' medical records. The aim of the present study was to evaluate the screening of a group of short-stature girls for TS based on the number of CAG repeats of the androgen receptor gene analyzed by GeneScan software. Patient samples with two alleles (heterozygous) were 49/64 (76.5%) and with one allele (homozygous) were 15/64 (23.5%). A karyotype was determined in 30 patients, 9 homozygous and 21 heterozygous. In the homozygous group, 6/9 were 45,X and 3/9 were 46,XX. In the heterozygous group, 17/21 were 46,XX, and 4/21 were TS patients with mosaicism (45,X/46,XX; 45,X/46XiXq; 46XdelXp). The pattern obtained by GeneScan in two patients with mosaicism in the karyotype was an imbalance between the peak heights of the two alleles, suggesting that this imbalance could be present when there is a mosaicism. The frequency of TS abnormalities (18.7%) did not differ between TS and 46,XX girls. Thus, it is important to accurately assess the incidence of TS in growthretarded girls, even in the absence of other dysmorphisms. In this study, we diagnosed 6 cases of TS 45,X (9.4%) by molecular analysis, with a 100% sensitivity and 85% specificity. This molecular analysis was able to detect all cases of TS 45,X and the majority of mosaicisms, without the need for more X chromosome markers. In conclusion, determining the number of CAG repeats of the androgen receptor gene analyzed by GeneScan was a fast method with high sensitivity for the detection of TS 45,X, suggesting that it could be interesting as a method for screening a population of growth-retarded girls.

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Turner Syndrome

Cited by 9 publications

References 102 publications

C677T and A1298C Polymorphisms ofMTHFRGene and Their Relation to Homocysteine Levels in Turner Syndrome

C677T and A1298C Polymorphisms ofMTHFRGene and Their Relation to Homocysteine Levels in Turner Syndrome

The role of sex chromosomes in mammalian germ cell differentiation: can the germ cells carrying X and Y chromosomes differentiate into fertile oocytes?

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature

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