Human Embryology and Teratology
Teaching text 11: Genital system 32: Malformations and anomalies 5
Anomalies of sexual differentiation
Turner syndrome: The patients are of female phenotype with defective ovaries. They are short with a square thorax. This is a case of X chromosome monosomy (45, X0).
Klinefelter syndrome: This is the most common anomaly of sexual differentiation. The patients are of male phenotype. They are tall, have long limbs and are infertile (defective testes). Their mammary glands are bigger (gynecomastia). The genotype is 47, XXY.