Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes.
OBJECTIVE
To characterize the phenotypic spectrum of males with bilaterally descended testes and a 45,X/46,X,(r)Y karyotype.


METHODS
Retrospective review of patient records; cytogenetic and molecular analysis.


METHODS
Tertiary medical center setting.


METHODS
Five males, two prepubertal and three postpubertal, with a 45,X/46,X(r)Y karyotype and bilaterally descended testes.


METHODS
Linear growth evaluation, testicular endocrine and exocrine studies, cytogenetic and molecular analysis on each patient.


METHODS
Clinical phenotype versus genotype.


RESULTS
Both prepubertal males had short stature and low testosterone. All three adults had normal puberty and normal testosterone levels. Two of the adults (one with short stature and one with normal stature) had elevated gonadotropins and azoospermia. The third adult had normal stature, severe oligospermia, normal gonadotropins, and normal serum testosterone.


CONCLUSIONS
The phenotypic spectrum of males with a 45,X/46,X(r)Y karyotype and bilaterally descended testes varies greatly from males with short stature and spermatogenic failure to males without short stature and less severely affected spermatogenesis. This broad spectrum of phenotypic findings needs to be taken into account when the clinical geneticist encounters a prenatal diagnosis of a 45,X/46,X(r)Y karyotype. This information will also be helpful for pediatric and reproductive endocrinologists in counseling males with bilaterally descended testes and a 45,X/46,X(r)Y karyotype.
Layman
Lawrence C
LC
Department of Obstetrics & Gynecology, The Medical College of Georgia, Augusta, Georgia 30912-3360, USA.
Tho
Sandra P T
SP
Clark
Andrew D
AD
Kulharya
Anita
A
McDonough
Paul G
PG
D000328:Adult; D053713:Azoospermia / Q000235:genetics / Q000503:physiopathology; D049628:Body Size / Q000235:genetics; D002648:Child; D041322:Chromosomes, Human, Y; D005838:Genotype; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006060:Gonadal Dysgenesis, Mixed / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D011627:Puberty; D012189:Retrospective Studies; D012303:Ring Chromosomes; D012720:Severity of Illness Index; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology*; D013739:Testosterone / Q000097:blood
D006062:Gonadotropins; D013739:Testosterone