{Science Geek Alert}

The “Fight” episode (Season 2, Episode 3) of Masters of Sex tackles the concept of ambiguous genitalia as Dr. Masters delivers a baby who they aren’t sure whether it’s a boy or a girl. What ambiguous genitalia means is that the genitals are not necessarily clearly evident as male or female, which can cause a great deal of conflict and confusion for parents. This can happen in 1 out of every 10,000 babies, although there is a lot of variation in numbers based on the cause. It is not the same as a hermaphrodite and the condition is easily treated once identified.

Ambiguous Genitalia

The genitals of both boys and girls develop from the same tissues, and they end up as either male of female genitals as determined by the baby’s genetics – XX chromosomes if it’s a girl (low male hormones) or XY if it’s a boy (higher level of male hormones). But sometimes, the way the genitals develop doesn’t always match their genetic sex. Depending on the amounts of male sex hormones the fetus is exposed to during growth in the mother’s womb, their genitals can look more like male or female at birth. The amount of male hormones is usually regulated by the baby’s genetics (XX or XY), but sometimes there is a difference between their genetics and how much male hormone exposure during the pregnancy. In boys with too little male hormones or girls with too much male hormone, the genitals can take on characteristics of either or both, making the situation a little confusing.

In Boys

When a baby boy developing in the uterus does not get the right amount of exposure to male hormones (androgens), or his body is somehow resistant to the effects of androgens, he could develop ambiguous genitalia. This can include a smaller penis, testicles that are more internal and not necessarily found in the scrotum, a separation of the scrotum so that it starts to look like labia, or an opening of the urethra (where urine comes out) that is not on the tip of the penis but is usually below it instead which is called hypospadias. Once diagnosed, it is easily treated with steroid treatments and some cosmetic surgery. If there is hypospadias, urological surgery may be needed to alter the opening of the urethra or the appearance, but this is easily done with excellent results, especially when performed early.

In Girls

A developing girl fetus can develop ambiguous genitalia if she is exposed to higher than normal levels of androgens in utero. This can result in an enlarged clitoris so that it may take on the appearance of a small penis. The opening of the labia may be partially or completely closed so that it resembles a scrotum, although there is a vagina and other normal female reproductive organs inside. It is very important to have the underlying cause diagnosed as early as possible to prevent further exposure to high levels of male hormones which can cause bodily changes similar to boys with increased hair growth, lower voice, and can affect the timing of puberty. Treatment also consists of balancing the steroid and sex hormones and cosmetic surgery to correct any fusion of the labia preventing an adequate opening of the vagina and urethra.

Congenital Adrenal Hyperplasia

One of the most common causes of ambiguous genitalia is congenital adrenal hyperplasia. This is a condition in which certain genes have slight defects that affect the production of hormones like cortisol. The result is not only an increase in androgens produced, but also a deficit in cortisol which, in some cases, could be life threatening. It can manifest as poor feeding or vomiting, difficulty balancing electrolytes or dehydration, and abnormal heart beat. Many states now test newborns specifically for congenital adrenal hyperplasia so that it can be treated early. Milder cases that are left untreated can still have some consequences, especially related to puberty, growth, and developing male bodily characteristics.

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