Hypospadias in ring X syndrome.

Ring X is a chromosomal anomaly mainly seen in females with turner syndrome and usually present in mosaic form with 45,X cells (45,X/46,X,r(X)) because of their mitotic instability. In males it is an extremely rare finding because large nullisomy for X chromosome material is likely not compatible with survival. Only two cases of male with ring chromosome X were previously reported. We report here a four-year-old male with ring chromosome X characterized using Karyotype, FISH and array CGH and presenting short stature, microcephaly and hypospadias. Molecular investigations showed 923 Kb terminal deletion on the pseudoautosomal region 1 (PAR1) including SHOX gene followed by a duplication of 2.4 Mb. The absence of functional nullisomy because of a second copy of deleted genes was present in chromosome Y PAR1 region may explain the compatibility with survival in our case of male with ring X. Short stature common with the two previously reported cases is likely related to SHOX gene deletion but also to the effect of "ring syndrome". However, hypospadias was not reported in the previous cases and can be due to the associated duplication outside PAR1 region including in particular PRKX gene coding for a protein involved in urogenital system morphogenesis.

Clinical, endocrinological and histopathological patterns of infertile Saudi men subjected to testicular biopsy: A retrospective study from a single center.

PURPOSE: To evaluate the outcome of testicular biopsies as well as the etiology of azoospermia and severe oligospermia in Saudi men referred for tertiary care. To correlate testicular histology with patients' clinical and hormonal profiles. MATERIALS AND METHODS: Charts of men subjected to testicular biopsies in the last 10-year period were retrospectively reviewed. Relative history and physical examination findings were reported. Results of male fertility profile tests and semen analysis of at least two ejaculates were collected. Reported histopathology was obtained. RESULTS: Reports of 229 patients were included; 199 (86.9%) with azoospermia and 30 (13.1%) with severe oligospermia. The mean (SD) age was 30.6 (6.4) years. A small right or left testis was reported in 88 (38.4%) and 87 (38%) of the patients, respectively. The mean (SD) testosterone and follicle stimulating hormone (FSH) values were 17.2 (7.2) nmol/L and 13.1 (10.9) IU/L, respectively. Hypospermatogenesis was the most common histology encountered (36.5%), followed by Sertoli cell-only (SCO) histology (31.5%). Low testicular volume (P = 0.000), high FSH (P = 0.001) and high leutenizing hormone (LH) (P = 0.001) were found to be of significantly adverse effect on spermatogenesis. Despite having bilateral small testes, high serum FSH and LH, 24.3% of our patients showed active spermatogenesis. CONCLUSIONS: Hypospermatogenesis was the most common pattern of spermatogenic defect in our patients. SCO histology was the most common pattern in patients with small testes, primary testicular failure, primary infertility and azoospermia. Low testicular volume, high FSH and LH are significantly associated with impaired spermatogenesis. Even with severe male factor infertility disorders, infertile men can have some spermatogenesis.

Penile abscess and necrotizing fasciitis secondary to neglected false penile fracture.

Penile infection and abscess formation have been described in association with priapism, cavernosography, intracavernosal injection therapy, trauma and penile prosthesis. We report a case of penile abscess and necrotizing fasciitis of penile skin in a 37-year-old male, presented 3 weeks after neglected false penile fracture.

Mechanical properties and radiopacity of experimental glass-silica-metal hybrid composites.

OBJECTIVES: Experimental glass-silica-metal hybrid composites (polycomposites) were developed and tested mechanically and radiographically in this fundamental pilot study. To determine whether mechanical properties of a glass-silica filled two-paste dental composite based on a Bis-GMA/polyglycol dimethacrylate blend could be improved through the incorporation of titanium (Ti) particles (particle size ranging from 1 to 3 microm) or silver-tin-copper (Ag-Sn-Cu) particles (particle size ranging from 1 to 50 microm) we measured the diametral tensile strength, fracture toughness and radiopacity of five composites. METHODS: The five materials were: I, the original unmodified composite (control group); II, as group I but containing 5% (wt/wt) of Ti particles; III, as group II but with Ti particles treated with 4-methacryloyloxyethyl trimellitate anhydride (4-META) to promote Ti-resin bonding; IV, as group I but containing 5% (wt/wt) of Ag-Sn-Cu particles; and V, as group IV but with the metal particles treated with 4-META. Ten specimens of each group were tested in a standard diametral tensile strength test and a fracture toughness test using a single-edge notched sample design and five specimens of each group were tested using a radiopacity test. RESULTS: The diametral tensile strength increased statistically significantly after incorporation of Ti treated with 4-META, as tested by ANOVA (P=0.004) and Fisher's LSD test. A statistically significant increase of fracture toughness was observed between the control group and groups II, III and V as tested by ANOVA (P=0.003) and Fisher's LSD test. All other groups showed no statistically significant increase in diametral tensile strength and fracture toughness respectively when compared to their control groups. No statistically significant increase in radiopacity was found between the control group and the Ti filled composite, whereas a statistically significant increase in radiopacity was found between the control group and the Ag-Sn-Cu filled composite as tested by ANOVA (P=0.000) and Fisher's LSD procedure. SIGNIFICANCE: The introduction of titanium and silver-tin-copper fillers has potential as added components in composites to provide increased mechanical strength and radiopacity, for example for use in core materials.