Chapter 167 Gonadal Dysgenesis
INTRODUCTION
Description: Gonadal dysgenesis is a developmental abnormality of patients who do not carry the stigmata of Turner’s syndrome but still have absent menarche because of chromosomal abnormalities. These patients generally are tall (>150 cm), are more normal in appearance, and are a chromosomally heterogeneous group (46,XX, 46,XY, or mosaic X/XY karyotypes).
ETIOLOGY AND PATHOGENESIS
Causes: Pure gonadal dysgenesis—45,XO (Turner’s syndrome); 46,XY gonadal dysgenesis (Swyer syndrome); 46,XX q5 X chromosome long-arm deletion, mixed or mosaic.
CLINICAL CHARACTERISTICS
Signs and Symptoms
(Based on the amount of chromatin lost.)
• Primary amenorrhea and infertility (the most common cause of failure to begin menstruation is gonadal dysgenesis; in approximately 60% of women with primary amenorrhea, an abnormality of gonadal differentiation or function has occurred during the fetal or neonatal period)
