- Sex Chromosomal Disorders
Genetic condition resulting in short stature with broad chest, and webbed neck, primary amenorrhea with replacement of ovaries with fibrous strands, coarctation of the aorta and other heart defeats. Treatment and prognosis; oestrogen replacement, growth hormone to treat short stature. Decreased life expectancy due to cardiovascular abnormalities.
Kinefelter SyndromeGenetic condition which results in atrophic testes, tall stature, gynecomastia (enlarged breasts in men), male infertility. Treatment; testosterone replacement after puberty.
Fragile X Syndrome
Genetic condition leading to mental retardation with autistic characteristics, macroorchidism (large testicles), hyperextensible joints and mitral valve prolapse. Prognosis; lifespan is not affected but supervision is required.