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Biomedical subjects

M Faggiano

Publications and source records attributed to M Faggiano.

At least 37 records · Page 2Linked to original sources
PubMed1980

Cytological evidence for the location of male-determining and H-Y genes on the short arm of Y chromosome.

Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Müllerian derivatives. Mosaicism 45,X0/46, X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the Y chromosome from the father. H-Y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.

Aneuploidy↗
PubMed1975

Two cases of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) associated with hGH deficiency and marginal impairment of other hypothalamic-pituitary functions.

Plasma hGH response to provocative tests (insulin-induced hypoglycaemia and arginine infusion) appears normal in Turner's syndrome. Two cases are reported of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) with unusual absence of plasms hGH response to provocative tests (arginine infusion, insulin-induced hypoglycaemia). Study of other pituitary functions supports the view that a hypothalamic-pituitary impairment is present in these cases. In fact, in these cases we observed low values of gonadotrophin excretion and limited responses of plasma ACTH and plasma corticosteroids to provocative tests (insulin-induced hypoglycaemia, metopyrone). Moreover, markedly abnormal plasma TSH response to TRF was observed in Case 2. The results are discussed with reference to the significance of this rare association.

Adolescent↗
PubMed1975

Effect of L-dopa on plasma TSH levels in primary hypothyroidism.

Plasma TSH responses after an i.v. injection of 100 mg of L-dopa were evaluated by radioimmunoassay in 4 normal euthyroid subjects and in 8 patients with primary hypothyroidism. In agreement with previous results, no variations to plasma TSH levels were observed in the euthyroid subjects. In contrast, in primary hypothyroidism L-dopa induced a biphasic response in plasma TSH. In fact, we observed a transitory increase witha maximum at 30 min (mean plus or minus SEM equals 54 plus or minus 18%) followed by a decrease reading a minimum level of plasma TSH basal values at 90 min (mean plus or minus SEM equals 15 plus or minus 6%). Thesefindings demonstrate that the plasma TSH response to L-dopa in primary hypothyroidism is time-dependent . Some speculation on the possible mechanism of this action is presented.

Adult↗
PubMed1975

[Clinical use in the radioimmunologic determination of plasmatic TSH].

Clinical value of plasma TSH radioimmunoassay in various thyroid diseases (primary hypothyroidism, hyperthyroidism and simple goiter) is discussed. In particular, the results obtained of plasma TSH after TRH administration either in thyroid disease either in various disorders of endocrinologic interest (massive obesity, Laurence-Moon Biedl's syndrome, true precocious puberty, congenital adrenal hyperplasia, Klinfelter's and Turner's syndromes) are discussed.

Adrenocortical Hyperfunction↗
PubMed1975

Laparoscopy in endocrine and genetic disorders of the gonads.

The guideline of this work is to examine the diagnostic value of laparoscopy in some endocrine and genetic syndromes connected with gonadal pathology or abnormal sexual development in relation to the various hormonal and cytogenetic techniques usually utilized by the endocrinologist. After a brief introduction, Chapter 1 stresses our purpose to examine the advantages and limits of laparoscopy by investigating the most significant cases that came to our observation. Attention is drawn in Chapter 2 to the application of laparoscopy in a particular form of amenorrhea (uterus absence), admittedly of great endocrinologic interest. In particular, the results obtained by the application of this technique are reported in cases of uterus agenesis and the testicular feminization syndrome. The clinical, cytogenetic and hormonologic study of one case of uterus agenesis is reported together with that of four cases of the testicular feminization syndrome with the view to discussing the differential diagnosis between these two syndromes and the particular diagnostic problems connected with the latter. Our conclusion is that laparoscopy, although usually having only a confirmatory value in these syndromes, may assume in certain cases major diagnostic importance (the post-puberal testicular feminization syndrome without palpable gonads, the pre-puberal testicular feminization syndrome, rare cases of the testicular feminization syndrome associated with chromosome aberrations). Chapter 3 discusses the application of laparoscopy in female gonadal dysgenesis on the basis of three cases of Turner's syndrome with different diagnostic problems and one of pure gonadal dysgenesis. It is stressed that, although in the majority of cases of Turner's syndrome the laparoscopic findings are quite characteristic (streak gonads), in some cases the gonads may also present the aspect of hypoplastic ovaries. This finding is observed in two cases of Turner's syndrome with XO/XX mosaicism, of which one case with spontaneous menarche. The diagnostic value of laparoscopy is discussed in the cases of pure gonadal dysgenesis and in variants of Turner's syndrome chromatin-positive with X chromosome partial monosomy and chromatin-negative with a Y chromosome. Our conclusion is that laparoscopy assumes particular diagnostic value in cases of pure gonadal dysgenesis without chromosome aberrations, because chromosome aberrations may be absent in this syndrome, as well as in chromatin-negative variants with a Y chromosome because the gonads and gonaducts differentiation may be variable.

Adolescent↗
PubMed1975

[Technical notes and clinical use of radioimmunologic determination of plasma ACTH].

Particular aspects of plasma ACTH radioimmunoassay are examinated. The results obtained with this method in adrenocortical diseases (Addison's disease, Cushing's syndrome, congenital adrenal hyperplasia) are reported and clinical value in etiological diagnosis of Cushing's syndrome is outlined. Moreover the results obtained in other syndromes of endocrinologic interest (massive obesity, Turner's and Klinefelter's syndromes, Laurence-Moon-Biedl syndrome, true precocious puberty, primary hypothyroidism, hypopituitary dwarphism) are reported and discussed.

Adolescent↗