Changes in steroid pattern following acute and chronic adrenocorticotropin administration in premature adrenarche.

Biochemically adrenarche is characterized by increased production of 5-ene steroids, in particular Dehydroepiandrosterone (DHA) and its sulphate (DHA-S). It is still not clear if ACTH is responsible for this adrenal steroid production. The aim of the present study was to evaluate the effect of acute and chronic ACTH administration, without dexamethasone pretreatment, on hormonal patterns in 20 patients (5 males aged between 6 8/12 and 7 10/12 years and 15 females aged between 5 9/12 and 7 6/12 years) with idiopathic premature adrenarche. Pregnenolone (5P), DHA, DHA-S, 17-hydroxyprogesterone (17-OHP), androstenedione (A), 11-deoxycortisol (S) and cortisol (F) have been determined by Radioimmunoassay. The results of the hormonal evaluation (means +/- standard error) showed high plasma levels of DHA [329.2 +/- 41.7 ng/100 ml (dl)] and DHA-S (169.1 +/- 54 micrograms/dl) and slightly increased levels of 5P (74.4 +/- 7.1 ng/dl), of A (45.4 +/- 4.6 ng/dl) and 17-OHP (69.3 +/- 11.3 ng/dl) in comparison to those of controls, thus indicating a decrease in 3 beta-hydroxysteroid dehydrogenase activity and an increase in 17-20-lyase and 17-hydroxylase activities, characteristic for adrenarche. Acute and chronic ACTH stimulation did not amplify the characteristic basal hormonal pattern, but they induced a shift of adrenal steroid metabolism to 4-ene pathway, suggesting that the basal hormonal pattern in premature adrenarche may be independent or, at least, not exclusively dependent on ACTH control.

[A clinical and cytogenetic study of 50 women with Turner's syndrome. Considerations of the problem of pregnancies in these patients. Part 2]. / Studio clinico e citogenetico di 50 donne con sindrome di Turner. Considerazioni sul problema delle gravidanze in queste pazienti. Seconda comunicazione.

The results of a study on 50 patients with Turner syndrome, all of them older than 14 years and never treated, are reported. In order to correlate karyotypes and clinical manifestations of the syndrome, we performed a complete physical examination and ultra sonographic tests of the heart, kidneys, uterus and ovaries. We found a better spontaneous growth and sexual maturation in mosaic 45.X/46.XX patients than in patients with 45.X and X structural anomalies. No differences were found in heart and kidney congenital anomalies between groups of patients with different karyotypes. We conclude that the presence of an XX-line has an ameliorating effect on height and gonadal function of patients with Turner syndrome.

Precocious puberty in the McCune-Albright syndrome. Progression from gonadotrophin-independent to gonadotrophin-dependent puberty in a girl.

A 5-year-old girl with McCune-Albright syndrome, was observed over a 7-year period. She presented with gonadotrophin-independent puberty and later developed gonadotrophin-dependent puberty. Hormonal signs of central puberty remained unchanged over the last 2 years.

Transient true precocious puberty. A report of five cases.

Five girls with idiopathic true precocious puberty are reported who underwent spontaneous regression of sexual development. In all patients the signs of sexual maturation were of moderate degree. Considering the possible spontaneous regression of precocious puberty, in similar cases it seems advisable to defer suppressive central therapy for about 6-12 months.

Premature thelarche: a follow up study of 40 girls. Natural history and endocrine findings.

Follow up of 40 girls with premature thelarche showed that where this disorder occurred before age 2 years it usually regressed completely, thus representing a transient and isolated phenomenon. Premature thelarche after age 2 years persisted more frequently, however, and represented the first sign of sexual development, generally leading to simple early puberty.

Mitral valve prolapse in Turner syndrome.

We have evaluated 46 patients with Turner syndrome by clinical examination, M-mode and two-dimensional echocardiography, dynamic exercise testing and 24 h Holter monitoring. Twelve patients (26.1%) had mitral valve prolapse and 7 patients (15.2%) had isolated non stenotic bicuspid aortic valve. Aortic root dilation was present in 2 patients (4.3%). Our data indicate that incidence of mitral valve prolapse is significantly higher in Turner syndrome than in the general population (P less than 0.025).