Junko Ashida

Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism

OBJECTIVE To evaluate the occurrence of mutations of androgen receptor (AR) gene in patients with isolated cryptorchidism. DESIGN Controlled clinical study. SETTING Yamagata University Hospital, Yamagata and Tokyo Electric Power Company Hospital, Tokyo, Japan. PATIENT(S) Patients with isolated cryptorchidism (n = 48) and a control group of men with normal phenotype (n = 20). INTERVENTION(S) Blood (lymphocyte DNA). MAIN OUTCOME MEASURE(S) Screening of the AR gene in exons 1-8 using single-strand conformational polymorphism analysis. RESULT(S) No abnormal band patterns were detected in patients with cryptorchidism or in control subjects within the eight exons of the AR gene. CONCLUSION(S) AR gene alterations appear to be an unlikely cause of isolated cryptorchidism.

Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis.

OBJECTIVE To evaluate the occurrence of microdeletions of the Y chromosome involving the DAZ and YRRM genes in patients with Klinefelters syndrome with and without spermatogenesis. DESIGN Controlled clinical study. SETTING Yamagata University Hospital, Yamagata, Japan. PATIENT(S) Patients with Klinefelters syndrome with spermatogenesis (n = 1) and without spermatogenesis (n = 20) and a control group of men of proven fertility (n = 10). INTERVENTION(S) Blood and semen sampling and testicular biopsy. MAIN OUTCOME MEASURE(S) Semen analysis, polymerase chain reaction amplification of 32 DNA loci on the long arm of the Y chromosome involving the DAZ (deleted in azoospermia) and YRRM (Y chromosome ribonucleic acid recognition motif) genes, and measurement of plasma FSH, LH, and testosterone levels. RESULT(S) No microdeletions of 32 loci were found in any of the patients with Klinefelters syndrome, either with or without spermatogenesis. Plasma LH and FSH levels were abnormally high and testosterone levels were reduced in all the patients with Klinefelters syndrome. American Society for Reproductive Medicine.) CONCLUSION(S) Severe impairment of spermatogenesis in patients with Klinefelters syndrome is not caused by microdeletions of the Y chromosome involving the DAZ and YRRM genes.

Absence of Y-chromosome microdeletions in patients with isolated hypospadias

Hypospadias is a disorder of male external genital development in which the urethral orifice is located on the ventral surface of the penis rather than at the tip of the glans. It is thought to result from incomplete fusion of the labioscrotal folds during morphogenesis of the external genitalia of the male embryo between 8 and 12 weeks of gestation. It is among the most common of male genital abnormalities, occurring in 0.1%–0.8% of live male births (1).

5α-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism

OBJECTIVE To evaluate the occurrence of mutations of 5alpha-reductase type 2 gene in patients with cryptorchidism or idiopathic azoospermia. DESIGN Controlled clinical study. SETTING Yamagata University Hospital, Yamagata and Tokyo Electric Power Company Hospital, Tokyo, Japan. PATIENT(S) Patients with isolated cryptorchidism (n = 48) or idiopathic azoospermia (n = 33) and a control group of males with proven fertility (n = 51). INTERVENTION(S) Collection and analysis of blood, leukocytic DNA, semen, and testicular biopsy. MAIN OUTCOME MEASURE(S) Semen analysis, screening of the 5alpha-reductase type 2 gene within exon 1 using direct sequencing and exons 2-5 using single strand conformational polymorphism analysis. RESULT(S) No mutations were detected in isolated cryptorchid men, idiopathic azoospermic men, or controls within the 5 exons of the 5alpha-reductase type 2 gene. CONCLUSION(S) 5Alpha-reductase type 2 gene abnormalities do not constitute a major factor in the development of cryptorchidism or idiopathic azoospermia.

DELETION OF Y CHROMOSOME INVOLVING THE DAZ (DELETED IN AZOOSPERMIA) GENE IN XX MALES

The testicular histology and the presence or absence of 32 Y DNA loci was investigated, with a focus on the long arm of Y chromosome (Yq) interval 6, by means of a polymerase chain reaction strategy in 2 XX males. Seminiferous tubules lined by only Sertoli cells and a slight thickening of tubular walls were observed. The men showed an absence of 32 Y DNA loci. These facts suggest that severe spermatogenic impairment is caused by deletions of Yq interval 6 in XX males.

ABSENCE OF Y CHROMOSOME MICRODELETIONS INVOLVING THE DAZ (DELETED IN AZOOSPERMIA) AND RBM (RIBONUCLEIC ACID-BINDING MOTIF) GENES IN PATIENTS WITH CHORDEE WITHOUT HYPOSPADIAS

The presence or absence of 33 DNA loci was investigated with a focus on the long arm of Y chromosome (Yq) interval 6 involving the DAZ and RBM genes, by means of a polymerase chain reaction strategy, in 10 patients with hypospadias. All patients did not show any of the 33 DNA loci. It would appear that chordee without hypospadias does not involve interval 6 of the Y chromosome.The presence or absence of 33 DNA loci was investigated with a focus on the long arm of Y chromosome (Yq) interval 6 involving the DAZ and RBM genes, by means of a polymerase chain reaction strategy, in 10 patients with hypospadias. All patients did not show any of the 33 DNA loci. It would appear that chordee without hypospadias does not involve interval 6 of the Y chromosome.