With non-invasive prenatal testing (NIPT) on the rise as a way to screen for some of the most common chromosomal defects, some of the other abnormalities revealed by the MaterniT21 PLUS are provoking interest. Some of those abnormalities involve the presence of additional or missing X- and Y-chromosomes, which determine the baby’s sex. If extra chromosomes are present, various combinations of internal sex organs and external genitalia are possible. Babies born with genetic, internal, external, or hormonal characteristics of both sexes are commonly referred to as intersex.
Due to the variety of conditions that fall under the definition of intersex, it is difficult to determine how many intersex individuals are born each year. Some estimate that the number of births may be as high as 1,500. Intersex individuals are likely more common than you may think.
What Does It Mean to Be Intersex?
As previously mentioned, intersex individuals can present in numerous ways. For example, a person might appear to be a male on the outside but have female internal sex organs. Or, the opposite could be true, with a female-presenting person with internal testes. Other intersex individuals are born with sex organs that appear to be somewhere between those typical of male and female, such as females with a notably large clitoris or males with a notably small micropenis.
Some of the more common intersex conditions include:
- Klinefelter syndrome, where males are born with an extra X chromosome, resulting in underexpression of male characteristics. Men with Klinefelter syndrome typically present with enlarged breasts, small genitalia, and a marked absence of body hair.
- Turner syndrome, where females are born with only one X chromosome. Females with Turner syndrome typically present with short stature and early reduction of ovarian functionality.
- Congenital adrenal hyperplasia, which produces elevated levels of hormones in the adrenal gland, leading to the masculinization of female sex organs
- Androgen insensitivity, where a chromosomally male body does not respond to androgen as usual. Depending on the level of insensitivity, this condition can lead to male genitals that are incompletely masculinized or the appearance of female genitals.
- 5-alpha reductase deficiency, where an insufficient amount of the 5-alpha-reductase enzyme causes under masculinization of male genitals
- Anagenesis, in which either the penis or vagina does not form and is missing at birth.
Depending on the condition, some parents elect to choose a sex closely matching the baby’s presented sex. However, sometimes surgery is involved, and is an irreversible change to the child’s person. Today, many experts advocate waiting until the child is old enough to weigh in regarding their sex and any surgeries necessary.
How Does Being Intersex Affect Development?
The sheer variety of the ways intersex individuals present varies the ways in which they appear.
Some intersex individuals are not apparent at birth, such as those with complete androgen insensitivity who appear female but are genetically male and do not have internal female sexual organs. Individuals presenting as one sex with genes for the opposite often do not discover their condition until they fail to reach puberty as expected. Males with Klinefelter syndrome may experience delayed puberty or may not experience puberty at all. Similarly, females with Turner syndrome often do not experience puberty and must take estrogen to prevent osteoporosis and other issues.
Do Intersex Individuals Stay Intersex?
Depending on the person, their outward appearance, and their preferences, intersex individuals may elect to use hormone therapy to bring about development similar to puberty in their outwardly reflected gender. Others elect for surgery to remove, alter, or enhance genitalia. Others are satisfied with their appearance.