What Does Ambiguous Genitalia Look Like?

Newborn males may have ambiguous genitalia, with a small penis that can be mistaken for an enlarged clitoris. Newborn females may lack a vaginal opening.

Ambiguous genitalia, also known as disorders of sexual development (DSD), is a rare condition that makes it difficult to determine the sex of a newborn by looking at their genitalia.

• Male newborns with ambiguous genitalia have a small penis that can resemble an enlarged clitoris. Sometimes, the urethral opening is located below the penis.
• Female newborns with ambiguous genitalia may not have a vaginal opening.

The sex of a newborn with ambiguous genitals is determined through chromosomal analysis.

A newborn can exhibit characteristics of both genders. Ambiguous genitals are often referred to as "intersex" in medicine. Determining the sex of a baby with ambiguous genitalia can be challenging, which can be distressing for parents. Sometimes, the child may be raised as one sex, only to discover their true sexuality during puberty.

How are genitals formed?

A baby inherits one set of sex chromosomes from each parent.

• A female baby has two X chromosomes (XX), inheriting one from each parent.
• A male baby has one X chromosome from the mother and one Y chromosome from the father (XY).

The Y chromosome contains the SRY gene. In a developing fetus with XY chromosomes, the SRY gene halts the development of female reproductive organs and allows the male reproductive system to form.

In the absence of the SRY gene, the fetus proceeds with the development of female reproductive organs. However, hormonal factors in the uterus also play a role in the organ development process.

When a female fetus overproduces male hormones or is exposed to excess male hormones during development, her genitalia may resemble a small penis.

In cases of insensitivity to male hormones or the failure to produce male hormones, a developing male fetus may have an abnormally small penis that resembles a female clitoris.

Ambiguous genitalia occur when the external sex organs formed do not align with the individual’s chromosomal sex.

How to determine the sex of a baby with ambiguous genitalia

In most cases, the presence of disorders of sexual development (DSD) is apparent. However, some cases may be difficult to diagnose until the child reaches puberty.

The sex of the child can be determined through:

• Physical examination of external genitalia
• Abdominal ultrasound and magnetic resonance imaging to assess internal reproductive organs
• Genitourethrogram to examine the urethra and vagina
• Chromosomal analysis to evaluate sex hormones (46XX for female, 46XY for male)
• Reproductive tissue biopsy to determine organ type
• Assessment of sex hormones in the body

Causes of ambiguous genitalia

Various factors influence the formation of ambiguous genitalia. However, in some cases, the exact cause remains unknown.

46 XX disorders of sexual development (DSD)

This condition occurs in female fetuses, in which the internal reproductive organs develop normally, but the external genitals have masculine characteristics.

The condition can be caused by exposure to excess male hormones due to:

1. Congenital adrenal hyperplasia:
2. The most common cause of DSD, in which the clitoris becomes enlarged like a penis, and the vagina lacks an opening.
3. A condition in which the adrenal glands produce excessive male hormones and low levels of cortisol.
4. A genetically inherited condition affecting 1 in 15,000 newborn females with ambiguous genitalia, while newborn males with the inherited gene are unaffected.
5. Hormonal therapy:
6. Sometimes, pregnant women are given hormones to support their pregnancy if they have hormonal imbalances.
7. However, this can lead to increased male hormones in the uterus, causing ambiguous genitalia in the female fetus.
8. Placental aromatase deficiency:
9. A rare condition characterized by very low levels of the enzyme aromatase.
10. Aromatase deficiency leads to reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
11. Maternal hormonal imbalance:
12. If the mother has a condition that increases the production of male hormones during pregnancy, it can affect the development of the female fetus.

46 XY DSD

In this condition, the male fetus develops male reproductive organs, but the size of the penis may be significantly smaller.

1. 5a-reductase deficiency:
2. 5a-reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT).
3. DHT plays a role in the development of male sexual organs in the fetus. Deficiency of 5a-reductase leads to low levels of DHT.
4. A genetically inherited condition in which both male and female fetuses receive the gene responsible, but only males are affected.
5. Testosterone biosynthesis defect:
6. In this condition, the production of testosterone is reduced due to a deficiency in certain enzymes involved in testosterone synthesis.
7. Partial androgen insensitivity syndrome:
8. A genetically inherited condition in which some cells in the body do not respond to male sex hormones.
9. Complete androgen insensitivity syndrome:
10. A genetically inherited condition in which the entire body does not respond to male sex hormones, resulting in external genitalia that resemble those of a female.

Disorders of gonadal differentiation

During the development of male reproductive organs, the testes may not fully develop, leading to three types of conditions:

1. Mixed gonadal dysgenesis: One side of the testes develops completely, while the other side remains underdeveloped.
2. Partial gonadal dysgenesis: Testicular tissue is formed but is not completely developed, and the testes may not function properly.
3. Gonadal dysgenesis: Reproductive organs remain underdeveloped, and the testes do not form.

Ovotesticular DSD

A very rare condition in which the fetus may have both male and female reproductive organs. In some cases, one side develops an ovary, while the other side develops a testis.

Treatment options for ambiguous genitalia

Treatment for ambiguous genitalia varies depending on the type of condition but typically involves corrective surgery to create or remove reproductive organs that align with the child’s gender. Hormone replacement therapy may also be used.

Undescended testes carry an increased risk of tumor development, so regular screening and possible removal of the testes may be necessary.

Undescended testes carry an increased risk of tumor development, so regular screening and possible removal of the testes may be necessary.