Pitrinelli et al. (Hum. Genet. 45,[351][352][353][354]
reported the occurrence of'gonadal dysgenesis' in a female patient with a karyotype of 46,X,del(X)(p22). This case report seemed to refute the consensus achieved between the hypothetical model of Hoo (1975) and the factual scheme of Fraccaro et al. (1977), which stated that a short arm deletion of the X chromosome distal to the band pl 1 would not cause gonadal dysgenesis (Hoo, 1979).
However, a scrutiny of the report published by Pitrinelli et al. reveals that the term gonadal dysgenesis has been incorrectly applied to their patient. Gonadal dysgenesis is characterized by primary amenorrhea, streak gonads, and elevated gonadotropins; but in the patient described by Pitrinelli et al. menarche occurred at age 14 and she continued to menstruate, even though menstruation was very irregular and scanty. Her left gonad was found to be rather small, but apparently not fibrotic or streak-like. Moreover, her plasma gonadotropins were low instead of elevated, as in cases of gonadal dysgenesis. Therefore, it is misleading to refer to the above patient as a case of gonadal dysgenesis. Unfortunately, the clinical data presented in the report were too sparse to allow further comment on the case.