GONADAL DYSGENESIS WITH MENSTRUATION: A REPORT OF 2 CASES

Abstract

THE syndrome of gonadal dysgenesis has lately been recognised as a very common c>ause of primary amenorrhea. Aided by the “nuclear sexing” method, described by Barr and his associates (1–4) and so brilliantly applied by Polani et al. (5), clinicians have been able to diagnose the condition in many cases in which the hitherto acceptable criteria of classic Turner's syndrome have been lacking. Thus, the typical vestigial gonadal ridges have been reported in patients who are not short (6–11); in many who lack the associated congenital stigmata (8, 11); in some with apparently good breast development (6, 9, 11–13); in those with a high, normal or low urinary gonadotropin (FSH) excretion (11, 13, 14); and, recently, in the presence of androgenic manifestations (8, 15, 16), or even of pseudohermaphroditic external genitalia (17). The histologic appearance of the gonads has not been uniform. The most primitive vestiges have been composed of stromal tissue without primordial follicles; in some cases, there has been evidence of more mature development with tunica albuginea, primordial follicles and follicular cysts (7, 11, 18). In others, again, some maturation has occurred in a male direction (8, 15, 16).