title: Laparoscopy in endocrine and genetic disorders of the gonads.
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D010535:Laparoscopy; D008297:Male; D009030:Mosaicism; D010049:Ovarian Diseases / Q000175:diagnosis; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis; D011629:Puberty, Precocious / Q000175:diagnosis / Q000235:genetics; D012728:Sex Chromatin; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics