Disease: Congenital Adrenal Hyperplasia
Symptoms: Signs and symptoms of CAH vary, depending on which gene is affected and the level of enzyme deficiency. 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. CAH Classic CAH Signs and symptoms of classic CAH may include: CAH  Insufficient cortisol. Classic CAH causes the body to produce an insufficient amount of cortisol. This can cause problems maintaining normal blood pressure, blood sugar and energy levels, and cause problems during physical stress such as illness. Adrenal crisis. People with classic CAH can be seriously affected by a lack of cortisol, aldosterone or both. This is known as an adrenal crisis, and it can be life-threatening.  Atypical genitalia. 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. The urinary opening (urethra) and the vagina may be only one opening instead of two separate openings. The uterus, fallopian tubes and ovaries usually develop typically. Male infants usually have typical-appearing genitals.   Excess androgen. An excess of the male sex hormone androgen can result in short height and early puberty for both males and females. Pubic hair and other signs of puberty may appear at a very early age. Severe acne also may occur. Excess androgen hormones in females may result in facial hair, excessive body hair and a deepening voice.  Altered growth. Rapid growth may occur during childhood with an advanced bone age. Final height may be shorter than average. Fertility issues. These can include irregular menstrual periods, or not having any at all, and having infertility problems in females. Fertility issues can sometimes occur in males.  Nonclassic CAH Often there are no symptoms of nonclassic CAH when a baby is born. Some people with nonclassic CAH never have symptoms. The condition is not identified on routine infant blood screening and usually becomes evident in late childhood or early adulthood. Cortisol may be the only hormone that's deficient. CAH CAH Females who have nonclassic CAH may have typical-appearing genitals at birth. Later in life, they may experience: CAH  Irregular menstrual periods, or not having any at all, and problems getting pregnant Masculine characteristics such as facial hair, excessive body hair and a deepening voice  In both females and males, signs of nonclassic CAH may also include: CAH  Early appearance of pubic hair and other signs of early puberty Severe acne Rapid growth during childhood with an advanced bone age and shorter than expected final height