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Unusual Turner mosaicism (45,X/47,XXX; 45,X/46,XXqi;45,X/46,XXr): Detection through deceleration from normal linear growth or secondary amenorrhea

1971; Elsevier BV; Volume: 79; Issue: 2 Linguagem: Inglês

10.1016/s0022-3476(71)80113-0

1097-6833

Lillian Y. F. Hsu, Kurt Hirschhorn,

Sperm and Testicular Function

Three patients with different types of Turner mosaicism including a 45,X line arepresented. Two patients were preadolescent girls who had normal linear growth during the first decade of their lives and inadequate growth thereafter. One of these girls has mosaicism of 45,X/47,XXX, and one is mosaic for 45,X/46,XXqi. The third patient, who has normal secondary sex characteristics but secondary amenorrhea, has 45,X/46,XXr mosaicism. It is apparent that detection of deceleration in linear growth in otherwise healthy preadolescent girls may be an important diagnostic clue for Turner mosaicism, as may secondary amenorrhea. Three patients with different types of Turner mosaicism including a 45,X line arepresented. Two patients were preadolescent girls who had normal linear growth during the first decade of their lives and inadequate growth thereafter. One of these girls has mosaicism of 45,X/47,XXX, and one is mosaic for 45,X/46,XXqi. The third patient, who has normal secondary sex characteristics but secondary amenorrhea, has 45,X/46,XXr mosaicism. It is apparent that detection of deceleration in linear growth in otherwise healthy preadolescent girls may be an important diagnostic clue for Turner mosaicism, as may secondary amenorrhea.