What do ambiguous genitals look like?
In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth).
What does androgynous genitalia look like?
An enlarged clitoris, which may resemble a penis. Closed labia, or labia that include folds and resemble a scrotum. Lumps that feel like testes in the fused labia.
How does congenital adrenal hyperplasia cause ambiguous genitalia?
Females with severe CAH are born with virilised (male looking) genitalia, so confusion as to the sex of the baby may occur. This is referred to as atypical or ambiguous genitalia. They too have low levels of minerals, especially salt, so show similar symptoms to boys.
What is a clinical manifestation of congenital adrenal hyperplasia in males?
Clinical presentation in males If the defect is severe and results in salt wasting, these male neonates present at age 1-4 weeks with failure to thrive, recurrent vomiting, dehydration, hypotension, hyponatremia, hyperkalemia, and shock (classic salt-wasting adrenal hyperplasia).
How is ambiguous genitalia treated?
For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girl’s vagina is hidden under her skin, surgery in childhood can help with sexual function later. For boys, surgery to reconstruct an incomplete penis may normalize appearance and make erections possible.
Are ambiguous genitalia rare?
In about 1% of all births, babies have some form of ambiguous genitalia, such as a very large clitoris or very small penis. In more rare cases—between 0.1% and 0.2% of live births—genitalia is so ambiguous that medical specialists are brought in for a consultation.
Is CAH an intersex condition?
Congenital Adrenal Hyperplasia (CAH) is the most prevalent cause of intersex among people with XX chromosomes.
What is congenital adrenal hyperplasia in females?
Congenital adrenal hyperplasia is an inherited disorder that results in low levels of cortisol and high levels of male hormones, causing development of male characteristics in females, and early puberty in both boys and girls.
How do you treat congenital adrenal hyperplasia?
Classic CAH is treated with steroids that replace the low hormones.
- Infants and children usually take a form of cortisol called hydrocortisone.
- Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.
Can CAH go undiagnosed?
All children are affected differently and to different severity by CAH. Some females will also go undiagnosed at birth and will be noted to have CAH at an older age.
Can ambiguous genitalia be prevented?
How can the occurrence of ambiguous genitalia be prevented? Although prenatal dexamethasone therapy to prevent virilization of an affected female fetus with CAH has been shown to be moderately effective, the potential risks are felt to outweigh the benefits.
Is ambiguous genitalia the same as intersex?
Ambiguous genitalia, also referred to as intersex or disorders of sexual differentiation, is a rare condition where an infant’s sex organs have not clearly formed as either male or female.