21-hydroxylase deficiency classification
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Ahmad Al Maradni, M.D. [3]
Overview
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset, and presence of virilization.
Classification
Depending on severity and time of onset[1]
- Severe 21-hydroxylase deficiency causes salt-wasting congenital adrenal hyperplasia, with life-threatening vomiting and dehydration occurring within the first few weeks of life, severe 21-hydroxylase deficiency is also the most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants
- Moderate 21-hydroxylase deficiency is referred to as simple virilizing congenital adrenal hyperplasia; and typically is recognized as causing virilization of prepubertal children
- Still milder forms of 21-hydroxylase deficiency are referred to as non-classical congenital adrenal hyperplasia and can cause androgen effects and infertility in adolescent and adult women
Depending on virilization of female infants[1]
Depending on the severity of hyperandrogenism, a female infant can be mildly affected, obviously ambiguous, or so severely virilized as to appear to be a male. Andrea Prader devised the following Prader scale as a way of describing the degree of virilization
- Stage 1 infant has a mildly large clitoris and slightly reduced vaginal opening size. This degree may go unnoticed or may be simply assumed to be within normal variation
- Stages 2 and 3 represent progressively more severe degrees of virlization. The genitalia are obviously abnormal to the eye, with a phallus intermediate in size and a small vaginal opening
- Stage 4 looks more male than female, with an empty scrotum and a phallus the size of a normal penis, but not quite free enough of the perineum to be pulled into the abdomen toward the umbilicus the single small urethral/vaginal opening at the base or on the shaft of the phallus would be considered a hypospadias in a male.
- Stage 5 denotes complete male virilization, with a normally formed penis with the urethral opening at or near the tip. The scrotum is normally formed but empty. The internal pelvic organs include normal ovaries and uterus, and the vagina connects internally with the urethra as in Stage 4. These infants are not visibly ambiguous are usually assumed to be ordinary boys with undescended testes.