Ambiguous Genitalia in Children: Symptoms and Causes

Ambiguous Genitalia in Children: Symptoms and Causes | Dr. Vishesh Dikshit


As a parent, it is natural to have concerns about your child’s health and development. When it comes to pediatric healthcare, you want nothing but the best for your little one. In this blog, we will delve into the symptoms and causes of ambiguous genitalia in children, and why seeking the care of a renowned pediatric specialist is crucial.

Understanding Ambiguous Genitalia

Ambiguous genitalia is a congenital condition in which a newborn’s external genitals do not have the typical appearance of either a boy or a girl. Instead, the child’s genitalia may appear atypical or somewhere in between male and female. This condition can be emotionally distressing for parents, but it is important to remember that it is a relatively rare condition.

Symptoms of Ambiguous Genitalia

  1. External Genital Appearance: One of the primary indicators of ambiguous genitalia is that the external genitalia do not clearly resemble those of a typical boy or girl. The child’s genitalia may have characteristics of both genders or appear completely different.
  2. Undescended Testes: In some cases, one or both testes may not be fully descended, further complicating the evaluation of the child’s sex.
  3. Urogenital Openings: The location of the urethral opening can also vary. In boys, this opening is typically at the tip of the penis, while in girls, it is typically below the clitoris.

Causes of Ambiguous Genitalia

Ambiguous genitalia can have various underlying causes, including:

  1. Hormonal Imbalances: An imbalance in the hormones responsible for sexual development during pregnancy can lead to ambiguous genitalia. This may be due to issues with the adrenal glands, placenta, or other factors.
  2. Genetic Factors: Certain genetic conditions, such as congenital adrenal hyperplasia, can result in ambiguous genitalia.
  3. Chromosomal Abnormalities: Conditions like Turner syndrome and Androgen Insensitivity Syndrome (AIS) involve chromosomal abnormalities that affect sexual development.
  4. Medication or Hormonal Exposure: If the mother takes specific medications or hormones during pregnancy, it can affect the development of the child’s genitals.
  5. Idiopathic: In some cases, the exact cause of ambiguous genitalia may remain unknown.

If your child is born with ambiguous genitalia, seeking the expertise of a trusted pediatric surgeon is essential.


Ambiguous genitalia is a challenging condition for both parents and children. However, with the right medical care and support, many children with this condition can lead healthy, fulfilling lives.