Turner Syndrome: Surgical Therapy

Streak gonads (in mosaic 45,X/46,XY).

In patients with the mosaic variant of Turner syndrome – that is, some somatic cells have the full chromosome set of 46 with the possible chromosome constellations of XX or XY, but others have a chromosome set of 45 due to the presence of only one X chromosome – streak gonads (connective tissue strands) are often detected instead of normal ovaries. This is a dysgenesis (malformation) of the ovaries, resulting in little or no synthesis (production) of estrogens (e.g. 17-beta estradiol). Affected girls do not have menstrual bleeding, and the condition is referred to as primary amenorrhea.The partial presence of the extra Y chromosome significantly increases the risk of malignant (malignant) gonadoblastoma (rare, usually hormone-producing tumor), which is why laparoscopic gonadectomy (removal of the streak gonads via laparoscopy) is recommended as early as the onset of puberty.