Pelvic ultrasonography in girls with precocious puberty, congenital adrenal hyperplasia, obesity, or hirsutism.

Real-time ultrasonography of the pelvic organs was performed on 151 girls with various complete and incomplete forms of precocious puberty, 20 girls with congenital adrenal hyperplasia, 20 with hirsutism, 18 with obesity, and 133 age-matched normal girls. Uterine and ovarian volumes were calculated and the ovarian morphologic picture was classified as homogeneous, nonhomogeneous (less than three small cystic areas), microcystic (four or more small cystic areas less than 9 mm in diameter), follicular (at least one cystic area greater than 9 mm), and macrocystic (large cystic area greater than 20 mm). Ultrasound imaging allowed an easy distinction between true precocious puberty and premature thelarche or idiopathic premature adrenarche. It was also helpful in the diagnosis of transient sexual precocity, although in these cases the differential diagnosis of precocious puberty can be difficult. In postmenarcheal patients with congenital adrenal hyperplasia, ultrasound study showed a low uterine volume and, frequently, a macrocyst in the ovary. In hirsute girls and in a few obese patients, ovaries had an increased volume and a microcystic structure, similar to those in polycystic ovary syndrome. Pelvic ultrasonography can be useful not only in diagnosing disorders in sexual development but also for greater understanding of the pathogenesis of these and other disorders.

Breast contact thermography for differentiation between premature thelarche and true precocious puberty.

Breast contact thermography was used to differentiate between premature thelarche and true precocious puberty. The technique was applied to 10 girls with premature thelarche, 12 with precocious puberty and 105 controls (Tanner B1-5). In controls, the scores attributed to the maturative thermographic signs correlated with breast development stages. In premature thelarche thermographic signs of vascularization were always absent, while in precocious puberty they were always observed, although in some cases unilaterally. The thermographic index (higher total score between the two breasts) ranged from 0 to 3 in girls with premature thelarche and from 4 to 10 in girls with precocious puberty. The thermographic pattern in premature thelarche was similar to that in prepubertal girls and did not progress in two girls who were repeatedly examined. We emphasize the useful role of contact thermography in evaluating pubertal breast development and in differentiating between premature thelarche and true precocious puberty.

Neonatal screening for cystic fibrosis by dried blood spot trypsin assay. Results in 47 127 newborn infants from a homogeneous population.

47 127 newborn infants from the Emilia-Romagna region were screened for cystic fibrosis by dried blood spot trypsin assay. In the initial 12 099 subjects screened with a non-standardized method, two children with cystic fibrosis were observed. Of the remaining 35 028 newborn infants, 299 showed high immunoreactive trypsin values; retesting revealed persistent elevation in 11. Sweat testing confirmed cystic fibrosis in 6 subjects and was normal in 5. Clinical monitoring of these 5 children has, as yet, shown no pathological signs. No false-negative test results have yet been identified. In our region, cystic fibrosis frequency would appear to be 1 case every 5 890 newborn infants. Our study confirms that elevated immunoreactive trypsin is characteristic of newborn infants with cystic fibrosis and that screening by determination of immunoreactive trypsin is of great benefit since it allows early diagnosis and a rational approach to therapy.

Thyroid function and prolactin levels in insulin-dependent diabetic children and adolescents.

We evaluated serum thyroid hormones, TSH, and prolactin before and after induction of TRH and thyroid microsomal autoantibodies in 91 diabetic children and adolescents (mean age 11.11 +/- 4.13 yr), with illness ranging from a few days to 14.25 yr, and in 127 "short-normal" subjects (mean age 10.32 +/- 3.18 yr). All were clinically euthyroid. The control pubertal subjects showed T4, rT3, TBG, and rT3/T3 ratio values that were significantly lower than those of prepubertal subjects. The PRL area was significantly higher in pubertal than in prepubertal females. In diabetic patients, differences between pubertal and prepubertal subjects were similar to those of controls regarding T4 levels and PRL area only. T3, T4, and fT3 appeared to be significantly lower than in controls, while the rT3/T3 ratio was higher. A negative correlation (r = -0.277, P = 0.009) between T3 and HbA1 levels was demonstrated. Furthermore, thyroid function was not different in subjects with or without retinal changes or in subjects with or without residual B-cell function. Microsomal autoantibodies were observed in 6.25% of the subjects examined, though none showed any clinical or humoral sign of impaired thyroid function. In conclusion, the lower T4 and rT3 values detected in pubertal controls suggest an increased efficacy of peripheral thyroid activity in this particular life span. Considering the fact that, in diabetic children, such a decrease in rT3 at puberty is not present and that the T3 value in diabetic children is persistently lower than in controls, it would seem that even diabetic children show a "low T3 syndrome," as in adult diabetic subjects.

How many cases of true precocious puberty in girls are idiopathic?

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.

Disordered prolactin secretion in the obese child and adolescent.

Thirty-eight obese (13 prepubertal, 25 pubertal) boys, and 17 obese (16 prepubertal, 11 pubertal) girls underwent a thyroid-releasing hormone test with assay of prolactin. Obese pre-pubertal boys had prolactin levels that were significantly below those of the control group both under basal conditions and after stimulus. In the obese pubertal boys the difference was significant only after stimulus. The pituitary prolactin reserve in obese pubertal girls was lower than that of the control group. We conclude that in children and adolescents obesity may induce a hypothalamo-pituitary disorder that affects prolactin secretion.

Gonadal and adrenal secretion of dehydroepiandrosterone sulfate in prepubertal and pubertal subjects.

The Authors have evaluated the relationship between the secretion of dehydroepiandrosterone sulfate (DHA-S) by the adrenal glands and by the gonads in a group of prepubertal and pubertal subjects ("short normal"), both males and females. In the male subjects of a hCG test and an ACTH test were performed; in the female subjects only the latter test was carried out. The behavior of DHA-S under basal conditions was also assessed in both sexes and related to bone age and chronological age in the prepubertal period and during the early stages of puberty. Plasma levels of DHA-S in both sexes increase progressively with chronological age and bone age. A negative correlation was found between DHA-S and bone delay (expressed in percent relative to chronological age) in prepubertal subjects, both males and females. A significant increase in DHA-S after hCG stimulation was found both in prepubertal and pubertal boys. After ACTH stimulation DHA-S increased significantly in prepubertal and pubertal males and females; throughout the test no difference was found between prepubertal and pubertal subjects nor between male and female subjects. Our data confirm that DHA-S is produced both by the adrenals and by the testes.