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Biomedical subjects

G Giovannelli

Publications and source records attributed to G Giovannelli.

At least 19 recordsLinked to original sources

[National Register of congenital hypothyroidism].

The results of five years activity of the National Register of children with Congenital Hypothyroidism (NRCH) have been evaluated. NRCH was established in Italy in 1987, as a pilot project of Health Ministry. All Italian Centers in charge of the screening, treatment and follow-up of CH are involved in the program. The results have provided further epidemiological informations about CH in Italy and have evidenced some aspects in the screening organization which had to be improved. Discussion of Register data in annual meetings has recently allowed to obtain an improvement especially for the beginning of treatment and the used dose of therapy.

Congenital Hypothyroidism

[Evaluation of the pituitary reserve of gonadotropins and seminal function of the testis in subjects operated for cryptorchism].

76 patients (prepuberal, puberal and adults) who had undergone surgery for monolateral (35) or bilateral (41) cryptorchidism in childhood were studied. Testicular volume (76 cases), seminiferal function (18 cases) and pituitary gonadotropin reserve (51 cases) were evaluated. We obtained the following results: 1) the prepuberal patients had a normal testicular volume, while 70% of the puberal and adult patients had a mean testicular volume below normal levels. 2) 55.6% of the adults who underwent spermiogram had a pathological seminiferal function. 3) The number of patients whith exagerated gonadotropin response to GnRH-test increases with increasing puberal stage and reaches its highest significance after complete puberal development. These data confirm that: 1) the long permanence of one or both testis out of their natural position has a negative influence on their trophism; 2) the long-term prognosis of the tubular function of the testis after orchidopessis is poor in a high percentage of cases. 3) the endocrine anomalies which follow the early morphologic and functional changes of the cryptorchid testis are more easily detected during puberty as a reduced hypothalamic feedback of the gonadotropin secretion.

Adolescent

McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.

A 6 5/12-year-old boy with polyostotic fibrous dysplasia, café-au-lait pigmentation of the skin, and precocious pubertal development was studied for two years. Parathormone, calcium, phosphorus, testosterone, cortisol, and growth hormone levels were within normal limits. Urinary 17-ketosteroids, 17-ketogenic steroids, and estrogens were at the upper limits of normal. After GnRH stimulation, there was only a very slight increase in LH and no increase in FSH. There was no increase in TSH after TRH, and plasma levels of T4 and T3 were normal. The plasma prolactin level was within normal limits, and increased after TRH stimulation (with a second, delayed upsurge). Abnormal distribution of 131I in the thyroid was evident, without clearcut evidence of hyperfunctioning areas after TSH stimulation and T3 suppression tests followed by conventional scanning and gamma camera scintiphotography. Our findings do not support the claimed, single, hypothalamic origin of the disease that is presumed to result in overproduction of releasing hormones; they are more in keeping with a pleiotropic, scattered peripheral lesion, possibly of embryonal origin.

Child

Endocrine aspects of trisomy 4p.

The main endocrinological parameters were investigated in two sisters affected with trisomy 4p. Our findings rule out any impairment of the endocrine system in this rare syndrome, even in those cases in which stunting of growth is more pronounced. The marked weight deficit in one of the two patients had no relationship to the chromosomal anomaly; it was determined by the association of a deficit of immunoglobulin with a Giardia Lamblia infestation.

Adolescent