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Spontaneous growth and pubertal development in Turner's syndrome with different karyotypes
Author(s) -
Mazzanti L,
Nizzoli G,
Tassinari D,
Bergamaschi R,
Magnani C,
Chiumello G,
Cacciari E
Publication year - 1994
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1994.tb18098.x
Subject(s) - growth spurt , turner syndrome , medicine , karyotype , turner's syndrome , breast development , x chromosome , bone age , gonadal dysgenesis , gynecology , pediatrics , endocrinology , chromosome , genetics , biology , hormone , gene
We studied spontaneous growth and pubertal development in 205 girls with Turner's syndrome, aged 1 month to 28.16 years, according to different karyotypes: 45, X (52%), X‐mosaicism (12%), X‐structural abnormalities (36%). Data on height, weight, height velocity, bone age and pubertal development were collected yearly in a mixed longitudinal and cross‐sectional mode. Pelvic ultrasonography was performed in 133 patients, 46 of whom had contact breast thermography. Standards for height and height velocity (1–20 years) showed no differences when compared with other studies. Some differences were found when these data were subdivided by karyotype. In fact, X‐mosaicism subjects had a pubertal growth spurt between 8 and 12 years of age. The spurt observed in this group cannot be justified by the more frequent presence of residual ovarian activity alone. It also appears in patients without ovaries and confirms the influence of a genetic factor on the X‐chromosome. In spite of this spurt, the greatest final height was reached by 45, X subjects. X‐mosaicism girls had more frequent spontaneous breast development linked to a higher percentage of visible ovaries. In this group the age of the first pubertal signs was similar to that of normal subjects and occurred much earlier than in the other groups.

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