Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families

Mattevi, Margarete S.; Wolff, H. G.; Salzano, Francisco M.; Mallmann, M. Clara

doi:10.1007/bf00295794

Cited by 18 publications

(8 citation statements)

References 21 publications

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“…the 45,X and 46,XX/45,X mosaic types. The general contention has been that the admixture of normal cell lines in 46,XX/45,X mosaics normalizes growth, so that such individuals become taller than 'pure' 45,X individuals (Berghoff et al 1976, Eberle et al 1973, Hienz 1971, Izakovic et al 1978, Kida 1970, Lindsten et al 1974, Majewski et al 1974, Mattevi et al 1971, Simpson 1977, Snider & Solomon 1974, but our results seem to cast some doubt on this opinion.…”

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confidence: 64%

Body height in Turner's syndrome

et al. 1982

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confidence: 64%

Body height in Turner's syndrome

et al. 1982

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“…It has since been demonstrated that the major pathological defect is the congenital failure of normal gonadal development, and that affected individuals typically have an XO sex chromosome constitution (16). Short stature and delayed, or lack of sexual maturation have been documented by numerous workers (1,7,15,20,21,23,30,32,39,47,55,60); however, because of the relatively low incidence of the syndrome, 1 per 5000 live births (41), and the problems associated with longterm growth studies, very few systematic studies have been based on large series (5).…”

Section: Speculationmentioning

confidence: 99%

Growth and Maturation of Patients with Turner's Syndrome

1983

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The effects of sex chromosome constitution and estrogen treatment on increase in height and on skeletal and sexual maturation were studied in 116 patients with female phenotype and at least one major feature of Turner's syndrome associated with an abnormality of an X chromosome. Seventy-one patients had a pure 45X karyotype (XO group) and the remainder comprised 33 with X chromosome mosaicism and 12 with a structurally abnormal X (non-XO group).Birth weight at all durations of gestation was similar for XO and non-XO but significantly lower than normal. Correlations of birth weight with adult height and weight were unexpectedly high, 0.96 and 0.92 respectively. Patients were significantly shorter than normal (P < 0.05) at all ages tested from 2-17 years, but increasingly more so after age 10. Mean adult height was 142.0 ± 7.60 cm (n = 28). Unlike most other reports there was no consistent pattern of significant differences in height between XO and non-XO or between Xp monosomic and Xp disomie patients.The 13 patients (2 XO, 11 non-XO) who experienced spontaneous menarche evidenced a slight premenarcheal growth spurt. In 11 of these 13 patients, the average growth rate increased from 3.00-4.83 cm/year in the year before menarche; however, this is far below the mean pubertal growth velocity of 9 ± 1.03 cm/year. This observation indicates that endocrine mechanisms associated with more normal pubertal sexual development also produce a more normal pattern of growth. The estrogen-treated group grew at a lower, fairly constant rate in the 2 years before and 1 year after treatment, and total increase in height after estrogen treatment averaged only 3.6 cm.Rate of skeletal maturation was less than normal (0.53 boneage year/chronologie year) in the 2 years before treatment, and greater than normal (1.47 bone-age year/chronologic year) in the two years after treatment, suggesting that these patients may be hypersensitive to the skeletal maturing effects of estrogen.Pretreatment breast development: absent or more delayed than pubic hair development, but the delay in both secondary sex characters was greater than the delay in skeletal maturation. At age 12, the average normal girl has moderate breast development, but at bone-age 12, only 5.4% of our patients had moderate breast development and only 10.8% had moderate pubic hair.Significantly but not unexpectedly more non-XO than XO patients experienced spontaneous menarche. Even the non-XO patients who require estrogen treatment may have a more normal level of ovarian function than do XO patients, who have significantly less pretreatment breast development and later epiphyseal fusion.

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“…These features alone did not warrant a clinical diagnosis of aneupoloidy , but the association of these minor malformations with congenital heart disease led us to look at her karyotype. As the incidence of congenital heart disease in the UTS is reported to be 35-50% [ I , 5 , 6 ] of predominantly left heart anomalies, and hypoplastic left heart syndrome is the severe extreme of left heart anomalies, we propose this infant's heart abnormality is secondary to her chromosome anomalies Familial recurrence of aneuploidies affecting the X chromosome have not been reported [7] . It is thought to be no more than in the general population, about 0.01 percent [ 5 , 8 ] .…”

Section: Discussionmentioning

confidence: 96%

“…It is thought to be no more than in the general population, about 0.01 percent [ 5 , 8 ] . Mosaicism is common in X chromosome aneuploidies [7] . The most frequently encountered type is 45 ,X/46,XX, but many other combinations have been found.…”

Section: Discussionmentioning

confidence: 99%

Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism

Bidot-López¹,

Matisoff²,

Talner³

et al. 1978

Am. J. Med. Genet.

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Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich-Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.

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Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families

Cited by 18 publications

References 21 publications

Body height in Turner's syndrome

Body height in Turner's syndrome

Growth and Maturation of Patients with Turner's Syndrome

Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism

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