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Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A

J C Giltay1, M G Ausems, I van Seumeren

  • 1University Medical Center Utrecht, Department of Medical Genetics, The Netherlands. J.C.Giltay@dmg.azu.nl

European Journal of Pediatrics
|March 30, 2001
PubMed
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Patients with 45,X/46,X, isodicentric Y mosaicism can present with short stature and a female phenotype, potentially developing gonadoblastoma without virilization or Turner stigmata. Karyotyping is crucial for detecting Y material and guiding gonadectomy.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Mosaicism involving Y chromosome material in individuals with a 45,X karyotype can lead to complex phenotypes.
  • Gonadoblastoma is a rare tumor associated with dysgenetic gonads, particularly in individuals with sex chromosome abnormalities.

Observation:

  • A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6) and no Turner stigmata.
  • Chromosome analysis revealed mosaicism: 45,X and 46,X, isodicentric (Y)(q11.23).
  • Gonadectomy identified a streak gonad and an abnormal gonad containing a gonadoblastoma.

Findings:

  • The patient's isodicentric Y chromosome (idic(Y)) contained the gonadoblastoma critical region.
  • Phenotypic presentation included short stature and a female phenotype without external virilization.

Related Experiment Videos

  • Absence of typical Turner stigmata was noted despite the 45,X cell line.

    • Implications:

    • This case highlights that 45,X/46,X,idic(Yp) mosaicism can result in a female phenotype with gonadoblastoma, even without virilization or Turner stigmata.
    • It underscores the importance of karyotyping for unexplained short stature to identify Y-derived material and assess the risk of gonadoblastoma.
    • Early detection through karyotyping can facilitate timely gonadectomy, preventing tumor development.