Bilateral renal angiomyolipoma with bilateral sarcomatous change

A 54-year-old man presented to the nephrology clinic with three months history of hematuria, weight loss and loss of appetite. Radiological and pathological investigations pointed to the diagnosis of multiple bilateral renal angiomyolipomas with bilateral high grade sarcomatuos transformation and lung metastasis, and with no manifestations of tuberous sclerosis. This is the first reported case of bilateral renal angiomyolipomas with multiple sarcomatous changes

Cytogenetic investigations in 201 females with primary amenorrnea

Two hundred and one females with primary amenorrhea were studied cytogenetically. Sex chromosome anomalies were found in 31 [15.4%] cases, including 17 females with the karyotype of Turner syndrome and 14 patients with the testicular feminisation syndrome. Among females with normal karyotype 17 cases strongly pointed to a single gene or unifactorial etiology, and 14 cases suggested the diagnosis of Rokitansky syndrome. The underlying cause of the primary amenorrhea in 139 patients remained obscure. These results indicate that cytogenetic investigation is one of the essential diagnostic tools in primary amenorrhea

Cytogenetic investigations among a referred population of azoospermic males

This study was conducted to observe the prevalence of chromosomal abnormalities among azoospermic males referred to cytogenetic laboratories in Baghdad. Previous reports on the prevalence of chromosomal abnormalities in this group of patients reveal a wide range of variability depending on the selection of cases and the size of the series. In this study 131 males with azoospermia were karyotyped. Thirty cases [22.9%] revealed a sex chromosome aneuploidy [Klinefelter's syndrome] while four cases [3.5%] showed a polymorphic large Y chromosome. It is thus apparent that males with azoospermia need cytogenetic evaluation with subsequent genetic counselling for the cases revealing chromosome abnormalities