mosaicism 46,XY/45,X

Synopsis

 mixed gonadal dysgenesis
 sexula ambiguity

• micropenis
• perineal hyspospadias

 gonadoblastoma in dysgenetic gonads

• Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/seminoma.
• An additional 10% gives rise to other malignant germ cell neoplasms.
• This tumor affects a subset of patients with intersex disorders.
• The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life.
• There are few cases with gonadoblastoma diagnosed in infants.
• Gonadoblastoma could be present at a very early age, so the prophylactic removal of the gonads is advised.

See also

 intersex disorders
 mosaicism 46,XX/46,XY

Open access references

 Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants. Peña-Alonso R, Nieto K, Alvarez R, Palma I, Nájera N, Eraña L, Dorantes LM, Kofman-Alfaro S, Queipo G. Mod Pathol. 2005 Mar;18(3):439-45. PMID: 15475933 [Free]