21-hydroxylase deficiency classification: Difference between revisions
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==Overview== | ==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]]. | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset, and the presence of [[virilization]]. | ||
==Classification== | ==Classification== | ||
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* 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. | * 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. | * 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 | * Still milder forms of 21-hydroxylase deficiency is referred to as '''''non-classical congenital adrenal hyperplasia''''' and can cause [[androgen|androgenic]] effects and [[infertility]] in adolescent and adult women.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref> | ||
===Depending on virilization of female infants=== | ===Depending on virilization of female infants=== | ||
Depending on the severity of hyperandrogenism, a female infant can be mildly affected or 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 | Depending on the severity of hyperandrogenism, a female infant can be mildly affected or 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. | *'''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 | *'''Stages 2 and 3''' represent progressively more severe degrees of virlization. The genitalia is 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 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 [[cryptorchidism|undescended testes]].<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref> | *'''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 [[cryptorchidism|undescended testes]].<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 13:28, 21 September 2015
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases |
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21-hydroxylase deficiency classification On the Web |
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American Roentgen Ray Society Images of 21-hydroxylase deficiency classification |
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Risk calculators and risk factors for 21-hydroxylase deficiency classification |
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 the presence of virilization.
Classification
Depending on severity and time of onset
- 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 is referred to as non-classical congenital adrenal hyperplasia and can cause androgenic effects and infertility in adolescent and adult women.[1]
Depending on virilization of female infants
Depending on the severity of hyperandrogenism, a female infant can be mildly affected or 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 is 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.[1]