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2.
J Pediatr ; 131(1 Pt 1): 135-40, 1997 Jul.
Article in English | MEDLINE | ID: mdl-9255205

ABSTRACT

Real-time ultrasonography was performed in 142 patients with Turner syndrome, aged 0.57 to 21 years, with different karyotypes (45,X [4896], X mosaicism [17%], and X structural abnormalities [35%]). Ovarian and uterine volumes were calculated and the data collected in a mixed longitudinal and cross-sectional mode. Thirty-eight patients were followed longitudinally during pubertal age (10 to 18 years bone age) for ovarian data. Patients with Turner syndrome were divided into two groups according to the presence or absence of detectable ovaries. Patients with Turner syndrome with detectable ovaries showed the first increase in ovarian volume at about 9 years of bone age; this increase was continuous and more evident only after 14 years of age and appeared later than in control subjects. When followed longitudinally during puberty, the ovaries showed a hormonal function in some cases. Girls with X mosaicism had the highest percentage of bilateral detectable ovaries and the greatest total ovarian volume; about 50% of them had spontaneous breast appearance and 38.5% had spontaneous menarche. They showed also the lowest gonadotropin levels, when bilateral ovaries were present during puberty. On the contrary, patients with the 45,X karyotype had the lowest percentage of detectable ovaries, ovarian volume, and spontaneous breast appearance. In our patients with Turner syndrome, uterine measures increased significantly with age and this was more evident in subjects with detectable ovaries after 13 years of bone age. Compared with control subjects, they showed significantly lower uterine measures, and patients with X mosaicism had greater and more progressive increments. In conclusion, pelvic ultrasonography in Turner syndrome is particularly useful in detecting ovaries and their possible increase in volume. These data, linked with karyotype pattern and gonadotropin levels, have prognostic value in predicting the future sexual development of these patients.


Subject(s)
Karyotyping , Ovary/diagnostic imaging , Turner Syndrome/diagnostic imaging , Uterus/diagnostic imaging , Adolescent , Adult , Age Determination by Skeleton , Age Factors , Breast/growth & development , Child , Child, Preschool , Cross-Sectional Studies , Female , Follicle Stimulating Hormone/blood , Follow-Up Studies , Humans , Infant , Longitudinal Studies , Luteinizing Hormone/blood , Menarche , Mosaicism , Ovary/growth & development , Prognosis , Puberty , Sex Chromosome Aberrations/genetics , Sexual Maturation/physiology , Turner Syndrome/genetics , Ultrasonography , Uterus/growth & development , X Chromosome/genetics
3.
J Pediatr ; 102(3): 357-60, 1983 Mar.
Article in English | MEDLINE | ID: mdl-6827406

ABSTRACT

Fifteen girls with true precocious puberty were examined by computerized tomography. In seven hypothalamic hamartomas were suspected. A pneumoencephalogram was performed in six cases (one patient refused), with the following results. In five, the radiological features were highly suggestive of tuber cinereum hamartoma. All of our patients with pubertal signs appearing before the age of 2 years and 80% of the girls with early menstruation were in the group with suspected hamartoma. The luteinizing hormone and follicle-stimulating hormone levels of these five girls were significantly higher than those observed in the other girls with idiopathic precocious puberty. We conclude that there is a high frequency of small hypothalamic masses (suspected hamartoma) in girls with true precocious puberty (33% of the patients in our group), that it is important to confirm the presence of the mass with pneumoencephalography, and that surgery for diagnostic and therapeutic purposes should be carefully considered, given the absence of any neurologic symptoms for a long time after the appearance of the first pubertal signs.


Subject(s)
Hamartoma/complications , Hypothalamic Neoplasms/complications , Puberty, Precocious/etiology , Child , Child, Preschool , Female , Hamartoma/diagnosis , Hormones/blood , Humans , Hypothalamic Neoplasms/diagnosis , Infant , Pneumoencephalography , Puberty, Precocious/diagnosis , Tomography, X-Ray Computed , Tuber Cinereum
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