CAH may also be identified when male or female babies show signs of severe illness due to low levels of cortisol, aldosterone or both. Rapid growth during childhood with an advanced bone age and shorter than expected final heightĬlassic CAH is usually detected at birth through routine newborn screening or when babies have atypical genitalia.Early appearance of pubic hair and other signs of early puberty.In both females and males, signs of nonclassic CAH may also include:
Masculine characteristics such as facial hair, excessive body hair and a deepening voice.Irregular menstrual periods, or not having any at all, and problems getting pregnant.Cortisol may be the only hormone that's deficient.įemales who have nonclassic CAH may have typical-appearing genitals at birth. The condition is not identified on routine infant blood screening and usually becomes evident in late childhood or early adulthood. Some people with nonclassic CAH never have symptoms. Often there are no symptoms of nonclassic CAH when a baby is born. Fertility issues can sometimes occur in males. These can include irregular menstrual periods, or not having any at all, and having infertility problems in females. Final height may be shorter than average. Rapid growth may occur during childhood with an advanced bone age. Severe acne also may occur.Įxcess androgen hormones in females may result in facial hair, excessive body hair and a deepening voice.
Pubic hair and other signs of puberty may appear at a very early age. An excess of the male sex hormone androgen can result in short height and early puberty for both males and females. Male infants usually have typical-appearing genitals.Įxcess androgen. The uterus, fallopian tubes and ovaries usually develop typically. The urinary opening (urethra) and the vagina may be only one opening instead of two separate openings. Female infants may have atypical genitalia appearance, such as an enlarged clitoris that may resemble a penis, and a partially closed labia resembling a scrotum. This is known as an adrenal crisis, and it can be life-threatening.Ītypical genitalia. People with classic CAH can be seriously affected by a lack of cortisol, aldosterone or both. This can cause problems maintaining normal blood pressure, blood sugar and energy levels, and cause problems during physical stress such as illness. Classic CAH causes the body to produce an insufficient amount of cortisol. Signs and symptoms of classic CAH may include: The imbalance of hormones the body needs to function may mean too little cortisol, too little aldosterone, excess androgens or a combination of these imbalances.
Signs and symptoms of CAH vary, depending on which gene is affected and the level of enzyme deficiency.
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