HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

A 15-year-old girl with pubertal masculinization due to bilateral gonadoblastoma and 45,X/46,X,+mar karyotype.

Abstract
We report the case of a 15-year-old girl with bilateral gonadoblastoma and 45,X/46,X,+mar karyotype. She was short but had no other stigmata of Turner syndrome. Her genitalia were completely of the female type until she began to show signs of masculinization at age 13 years. She had breasts of Tanner stage 4, primary amenorrhea, clitoromegaly, hirsutism and low voice. Plasma testosterone level was elevated and returned to normal after the successful removal of the bilateral gonadoblastoma. Her karyotype was 45,X/46,X,+mar and it was proved that the marker chromosome was derived from the short arm of the Y chromosome by Southern blot analysis with a Y chromosome specific probe, pDP1007. Even when there are no stigmata of Turner syndrome or signs of intrauterine virilization, the possibility of gonadoblastoma should not be ruled out in girls who show postnatal virilization.
AuthorsS Yukizane, R Yamakawa, T Murakami, H Kato, N Niikawa
JournalThe Kurume medical journal (Kurume Med J) Vol. 41 Issue 3 Pg. 155-9 ( 1994) ISSN: 0023-5679 [Print] Japan
PMID7853832 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Female
  • Gonadoblastoma (complications, genetics)
  • Humans
  • Karyotyping
  • Ovarian Neoplasms (complications, genetics)
  • Puberty
  • Turner Syndrome (genetics)
  • Virilism (etiology, genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: