Many genetic disorders are associated with reproductive problems. Genetic disorders are caused by spontaneous gene mutations or by inherited genes. Inherited genes can be recessive--which means that both parents must pass on the gene for a child to be affected--or dominant, which means that only one copy of the gene must be passed on for a child to be affected.
Kallmann Syndrome
Kallmann syndrome results from a gene mutation and is more common in males than females. Kallmann syndrome is a form of hypogonadotropic hypogonadism. Males with this disease have a small penis, undescended testicles and don't develop secondary sex traits such as facial hair and a deep voice. Females with this genetic mutation usually don't have menstrual periods and have little breast development. Four genes cause variations of Kallmann syndrome. In Kallmann 1, the disease is passed from mother to son on the X chromosome; other forms of Kallmann syndrome can be passed as dominant or recessive genes, the U.S. National Library of Medicine says. Testosterone administration may be helpful in development of secondary sex characteristics.
Klinefelter Syndrome
According to the Mayo Clinic, Klinefelter syndrome, which is caused by an extra X chromosome, affects between 1 in 500 to 1,000 males and is one of the most common genetic disorders. Klinefelter syndrome causes low levels of testosterone production, which leads to infertility and decreased secondary sex characteristics. Males with Klinefelter syndrome may have delayed puberty, enlarged breasts and decreased body and facial hair. Testosterone treatment can help with development of secondary sex characteristics at puberty, the Mayo Clinic says.
21-Hydroxylase Deficiency
21-hydroxylase deficiency is an autosomal recessive disease, which means both parents must have the gene and pass it on for the infant to have this condition. 21-hydroxylase deficiency causes an excess of male hormone. Baby girls who inherit this condition have a normal uterus and ovaries, according to the U.S. National Library of Medicine, but their external genitalia are masculinized or ambiguous. Males with this condition may go through puberty at a young age. Hormone therapy in the form of steroids may be given to treat this condition.
Turner Syndrome
The Mayo Clinic says Turner syndrome, which affects only females, is caused by a missing or incomplete X chromosome. Girls with Turner syndrome are often infertile due to premature ovarian failure; they may not develop secondary sex characteristics at puberty. Growth hormone therapy and estrogen are given to treat Turner syndrome. Women with this genetic disease may be able to become pregnant with the help of assisted reproductive technology.
