Molecular cytogenetic analysis of a ring-Y infertile male patient.

In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc). Several molecular markers distributed along the Y-chromosome were tested through PCR amplification, and a breakpoint was established close to the centromere, predicting the deletion of the growth control region, in agreement with the short stature observed in this patient. All results obtained through molecular cytogenetic characterization are in accordance with the clinical features observed in this patient.

Molecular cytogenetic analysis of a ring-Y infertile male patient

In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc). Several molecular markers distributed along the Y-chromosome were tested through PCR amplification, and a breakpoint was established close to the centromere, predicting the deletion of the growth control region, in agreement with the short stature observed in this patient. All results obtained through molecular cytogenetic characterization are in accordance with the clinical features observed in this patient.

Transvaginal sonographic and hysteroscopic findings in postmenopausal women receiving tamoxifen.

STUDY OBJECTIVE: To evaluate the effect of tamoxifen on the endometrium. DESIGN: Prospective study. SETTING: Department of Obstetrics and Gynecology of the University of Rome. PATIENTS: One hundred one postmenopausal women with breast cancer receiving tamoxifen 20 to 30 mg/day for at least 1 year; of these 78 were asymptomatic and 23 had vaginal bleeding. INTERVENTIONS: All patients underwent transvaginal color Doppler sonography. Those with endometrial thickness greater than 5 mm were advised to undergo hysteroscopy and if necessary endometrial biopsy. For women with endometrial thickness less than 5 mm, hysteroscopy was recommended only if irregular endometrial echotexture was observed. MEASUREMENTS AND MAIN RESULTS: Eleven (14%) asymptomatic patients and 1 (4.3%) with vaginal bleeding had endometrial thickness less than 5 mm (p = 0.4, NS). Women with vaginal bleeding had a significantly thicker endometrium than asymptomatic patients (15.8 +/- 7.5 vs 11.1 +/- 5.7 mm, p = 0.003). In the asymptomatic group 31 polyps, 15 atrophic endometria, and 6 hyperplasias were observed. Two endometrial cancers, 13 polyps, and 3 hyperplasias were detected in patients with vaginal bleeding. Hysteroscopy did not always allow endometrial biopsy, even in the presence of increased endometrial thickness with or without irregular surface. No statistical differences were found for mean pulsatility and resistance indexes of uterine and endometrial arteries between symptomatic and asymptomatic women, but these indexes were significantly lower compared with normal postmenopausal values. CONCLUSION: Women receiving tamoxifen, especially those who are asymptomatic, should be closely monitored by transvaginal sonography and hysteroscopy to detect endometrial pathologies.

Transvaginal Sonographic and Hysteroscopic Findings in Postmenopausal Women Receiving Tamoxifen

The effect of tamoxifen on the endometrium was assessed by transvaginal color Doppler sonography, hyteroscopy, and histology in 90 postmenopausal women, of whom 71 were asymptomatic and 19 had vaginal bleeding. All were treated with tamoxifen 20 to 30 mg/day for breast cancer for at least 1 year and all underwent transvaginal color Doppler sonography. Women with endometrial thickness greater than 5 mm and with vaginal bleeding were advised to undergo hysteroscopy and endometrial biopsy if necessary. In asymptomatic women with endometrial thickness of 5 mm or less, hysteroscopy was recommended if irregular endometrial echotexture was observed. Nine (12.7%) asymptomatic patients and 1 (5.3%) with vaginal bleeding had an endometrial width of 5 mm or less (p = 0.6, NS). Those with vaginal bleeding receiving tamoxifen had a significantly thicker endometrium than asymptomatic women (16.1 ± 7.7 vs 11.1 ± 5.7 mm, p = 0.003). A typical sonographic endometrial pattern with small hypoechoic cystic areas was reported in 83% of patients. In the asymptomatic group, 25 polyps, and 7 atrophic and 13 thickened endometria were observed at hysteroscopy. Two endometrial cancers, 11 polyps, and 1 atrophic and 4 thickened endometria were present in women with vaginal bleeding. Hysteroscopy did not always allow endometrial biopsy even if endometrial thickness with or without an irregular surface was observed. No statistical differences were revealed in the two tamoxifen groups for the mean pulsatility and resistance indexes of the uterine and endometrial arteries, which were otherwise significantly lower compared with normal postmenopausal values. Women receiving tamoxifen, especially asymptomatic women, should be closely monitored by transvaginal color Doppler ultrasonography and hysteroscopy to detect endometrial pathologies.

Radiological manifestations of small intestinal South American Blastomycosis.

Three cases of South American blastomycosis are described with involvement of the small intestine and/or ileocecal region. The radiologic findings are nonspecific, e.g., fixed narrowing and mucosal irregularities. Differential diagnostic possibilities include regional enteritis, tuberculosis and lymphoma. With increasing travel in endemic areas, recognition of tropical diseases becomes more important.