Sexual ambiguity a hereditary condition

Dear Dr. G,

I am a new mother in my mid-forties. Despite warnings from obstetricians before I got pregnant, I was determined to have a child.

Thankfully, with ART (artificial reproductive technology), I managed to get pregnant.

Sadly, as doctors had warned, I had complications related to the pregnancy.

During the mid-stage, my blood pressure and glucose levels went out of control. As a result, my baby was born two months premature.

Although I was grateful my child was healthy, doctors believe my baby has ambiguous genitalia, making it difficult to determine the true gender. However, they suspect my child has a condition known as congenital adrenal hyperplasia.

What exactly is the adrenal gland and how does this affect the appearance of a child’s gender?

What is exactly congenital adrenal hyperplasia and what are its causes?

Why is it difficult to determine my child’s gender and what is the most accurate way to determine it?

Lastly, what does a diagnosis of congenital hyperplasia involve and what treatment is needed?

Regards

Ambiguous Ashley

The adrenal glands rest atop the kidneys and are part of the endocrine system, which regulates hormone release within the body. Hormones are chemical messengers that turn processes in the body on and off. The adrenal glands consist of two parts: the inner section produces adrenaline, which is involved in the ‘fight or flight’ response to stress, while the outer section, the cortex, is responsible for releasing cortisol (the stress hormone), aldosterone (the blood pressure hormone), and sex hormones like androgens.

Defects in the adrenal glands typically affect the cortical hormones, as abnormal androgen levels can influence the development of external genitalia and secondary sexual characteristics, differentiating males and females.

Congenital adrenal hyperplasia (CAH) is a group of inherited conditions present at birth where the adrenal glands are larger than usual (hyperplasia). In CAH, the body is missing an enzyme that stimulates the adrenal glands to release cortisol. The absence of this hormone undermines the body’s ability to handle physiological stress, which can be life threatening, and increases androgen levels, causing male characteristics in boys and inappropriately in girls.

CAH is an inherited disorder passed from parent to child. Most types of CAH are autosomal recessive disorders, meaning both parents are carriers of the disease. Humans have about 20,000 to 30,000 genes, each with a specific function, arranged in pairs across 23 chromosomes. When both genes in a pair are faulty, the genetic instructions cannot function correctly.

Females with severe CAH are born with virilised (male-looking) genitalia, causing confusion about the baby’s sex. This condition is referred to as atypical or ambiguous genitalia. They also have low levels of minerals, especially salt, showing similar symptoms to boys. Children with mild CAH may experience abnormal or absent periods, a deep voice, early puberty and facial hair. Boys may have an enlarged penis, small testicles, early puberty, acne and a deep voice.

For babies born with ambiguous genitalia, blood tests are typically used to determine genetic gender. Blood and urine tests can also measure mineral and hormone levels for replacement therapy. Genetic testing may identify the specific type of CAH and the associated gene deficiency or mutation.

Children with CAH will need to take replacement cortisol and aldosterone daily for the rest of their lives. Surgical procedures may be necessary to ensure the child grows up with no further gender ambiguity.

The adrenal glands are among the most important organs in the human body, although they are discreetly tucked away above the kidneys. They play a vital role in balancing life functions and human appearance, even before birth. Though small mistakes in life formation can lead to ambiguity, modern medicine can detect and treat these issues effectively. While CAH can lead to ambiguous genitalia in some children, modern medical corrections can help us embrace such ambiguity.