Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

A mutation in the gene that regulates estrogen receptors seems to affect bone growth and development in men, as well as women, but may not cause death. Physicians studied a 28-year-old man who was over six feet six inches tall. The patient continued to grow taller in adulthood and was knock kneed. X-rays revealed thinning of the bones. In addition, the patient's long bones had not fused. Blood levels of estrogen, follicle-stimulating hormone, and luteinizing hormone were high. Insulin levels in the blood were also above normal. Physicians suspected that the patient was estrogen resistant and began treatment with high doses of estrogen. After six months, the patient's hormone and metabolic levels remained abnormal. Analysis of the patient's DNA revealed a mutation in the estrogen receptor gene. Each of the man's parents carried a mutation in one of the two genes that control estrogen receptors.