Visualizza PDF - Società Italiana di Andrologia
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Nuove prospettive sulla sindrome <strong>di</strong> Klinefelter 137<br />
tionally influence phenotype and social characteristic as well<br />
as pharmacogenetics of testosterone therapy in Klinefelter<br />
Syndrome. J Clin Endocrinol Metab 2004;89:6208-17.<br />
15 Christiansen P, Andersson AM, Skakkebaek NE. Longitu<strong>di</strong>nal<br />
stu<strong>di</strong>es of inhibin-β levels in boys and young adults with<br />
Klinefelter Syndrome. J Clin Endocrinol Metab 2003;88:888-<br />
91.<br />
16 Schulman GS, Redford-Badwal D, Poole A, Mathieu G,<br />
Burleson J, Dauser D. Taurodontism and learning <strong>di</strong>sabilities<br />
in patients with Klinefelter Syndrome. Pe<strong>di</strong>atr Dent<br />
2005;27:389-94.<br />
17 Geschwind DH, Boone KB, Miller BL, Swerdloff RS. Neurobehavioral<br />
phenotype of Klinefelter Syndrome. Ment Retard<br />
Dev Disabil Res Rev 2000;6:107-16.<br />
18 Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs<br />
PA; UK Clinical Cytogenetics Group. Cancer incidence<br />
and mortality in men with Klinefelter Syndrome: a cohort<br />
First group<br />
study. J Natl Cancer Inst 2005;97:1204-10.<br />
19 Nieschlag E, Behre HM, Bouchard P, Corrales JJ, Jones TH,<br />
Stalla GK, et al. Testosterone replacement therapy: current<br />
trends and future <strong>di</strong>rections. Hum Reprod Update<br />
2004;10:409-19.<br />
20 Breuil V, Euller-Ziegler L. Gonadal dysgenesis and bone metabolism.<br />
Joint Bone Spine 2001;68:26-33.<br />
21 Weiss JR, Moysich KB, Swede H. Epidemiology of male<br />
breast cancer. Cancer Epidemiol Biomarkers Prev<br />
22<br />
2005;14:20-6.<br />
Ferlin A, Garolla A, Foresta C. Chromosome abnormalities in<br />
sperm of in<strong>di</strong>vidual with constitutional sex chromosome abnormalities.<br />
Cytogenet Genome Res 2005;111:310-6.<br />
23 Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks<br />
Z, Schlegel PN. Success of Testicular sperm injection and intracytoplasmatic<br />
sperm injection in men with Klinefelter Syndrome.<br />
J Clin Endocrinol Metab 2005;90:6263-7.<br />
Question 1: Hematic gonadotropins (LH and FSH) in Klinefelter syndrome are generally:<br />
a) Lower than average<br />
b) Average<br />
c) Higher than average<br />
Question 2: If the sequence of androgen receptor has not a long CAG tail on first exon:<br />
a) Hormone-receptor complex is very efficient in transactivation of the transcription of specific target genes<br />
b) Hormone-receptor complex has tyrosin-kinase activity<br />
c) Receptor has marked affinity for its own ligand<br />
Question 3: During development of parents’ germ cells, a theoretical aneuploid zygote 47,XXY:<br />
a) Is generated by a sperm anomaly, which derives from an error during the second meiotic <strong>di</strong>vision in paternal spermatogenesis.<br />
b) Is generated only by an aneuploid oocyte 24,XX<br />
c. Could be generated by an aneuploidy in the oocyte as well as in the spermatozoa<br />
Second group<br />
Question 4: In Klinefelter syndrome:<br />
a) There is preferential inactivation of X chromosome which carries an androgen receptor with longer CAG tail<br />
b) There is preferential inactivation of X chromosome which carries an androgen receptor with shorter CAG tail<br />
c) There is no <strong>di</strong>fference between the choice of which X chromosome may undergo an inactivation<br />
Question 5: First clinical features of inadequate testosterone’s production appear:<br />
a) Before 13 years<br />
b) From 14 to 15 years<br />
c) After 16 years
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