title: [A study on sex chromosome mosaicism--endocrinological and immunohistochemical findings with glutathion S-transferase in the gonads].
abstract: In order to clarify the clinical aspects of sex chromosomal mosaicism, we evaluated the karyotypes, the anatomy of external genitalia and internal ductal system, the pituitary-gonadal function, and the histopathology of the gonads by immuno-staining for glutathion S-transferase (GST) in 5 patients who had been all raised as female. Three patients have the 45, X/46, XYq- karyotype in the initial lymphocyte culture or the subsequent culture of skin fibroblasts. Another two karyotypes were 45, X/46, XYq-/47, XYq-, Yq- and 45, X/46, XdicY. Thus, Y chromosome of all patients retained short arms in which the testis determining factor is encoded. Three prepubertal patients were referred to us for their ambigious external genitalia and two postpubertal patients were for the short statures. Although the vaginal orifice was separated from the urethral meatus in all of them, the phallic enlargement was noted in 4 patients and the posterior labial fusion in 2 patients. The oldest patient had a normal female appearance of external genitalia except the vaginal septum. Serum gonadotrophin (GnH) levels were basically high in the postopubertal patients and the responses of GnH to LH-RH were significantly increased in the prepubertal patients. Serum testosterone levels to hCG stimulation ranged from no response to low normal response. All patients underwent the exploratory laparotomy together with the feminizing genitoplasty. The gonads in 3 patients, diagnosed as mixed gonadal dysgenesis (MGD), consisted of a unilateral testis and a contralateral streak gonad. Two patients had variants, including one with bilateral dysgenetic testis and another with bilateral streak gonads.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Department of Urology, Hokkaido University School of Medicine.
authors.forename: K
authors.initials: K
authors.lastname: Nonomura
authors.forename: T
authors.initials: T
authors.lastname: Koyama
authors.forename: K
authors.initials: K
authors.lastname: Toyota
authors.forename: Y
authors.initials: Y
authors.lastname: Asano
authors.forename: T
authors.initials: T
authors.lastname: Gotoh
authors.forename: M
authors.initials: M
authors.lastname: Togashi
authors.forename: T
authors.initials: T
authors.lastname: Koyanagi
authors.forename: Y
authors.initials: Y
authors.lastname: Adachi
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005982:Glutathione Transferase / Q000378:metabolism*; D006062:Gonadotropins / Q000097:blood; D006066:Gonads / Q000201:enzymology; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012730:Sex Chromosomes; D013737:Testis / Q000201:enzymology
chemical_list: D006062:Gonadotropins; D005982:Glutathione Transferase