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==History and Symptoms==
==History and Symptoms==


===Early-onset: Severe 21-hydroxylase deficient CAH===
===Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia===
The two most serious neonatal consequences of 21-hydroxylase deficiency occur when there is minimal measurable hydroxylase activity from prenatal life: severe virilization of female infants and life-threatening salt-wasting crises in the first month of life for XX and XY infants alike.  
The two most serious neonatal consequences of 21-hydroxylase deficiency occur when there is minimal measurable hydroxylase activity from prenatal life: severe virilization of female infants and life-threatening salt-wasting crises in the first month of life for XX and XY infants alike.  


====Virilization of female infants====
Testosterone levels in these woman may be mildly elevated, or simply above average.
Virilization of genetically female (XX) infants usually produces obvious [[ambiguous genitalia|genital ambiguity]]. Inside the pelvis, the [[ovary|ovaries]] are normal and since they have not been exposed to testicular [[antimullerian hormone]], the [[uterus]], [[fallopian tube]]s, upper [[vagina]], and other mullerian structures are normally formed as well. However, the high levels of testosterone in the blood can enlarge the phallus, partially or completely close the vaginal opening, enclose the [[urethra]]l groove so that it opens at the base of the phallus, on the shaft or even at the tip like a boy. Testosterone can cause the [[labia]]l skin to become as thin and rugated as a [[scrotum]], but cannot produce palpable gonads (i.e., testes) in the folds.
 
====Salt-wasting crises in infancy====
The excessive amounts of adrenal testosterone produce little effect on the genitalia of male infants with severe CAH. If a male infant with CAH is not detected by [[newborn screening]], he will appear healthy and normal and be quickly discharged home to his family.
 
However, the lack of aldosterone results in a high rate of [[sodium]] loss in the urine. Urinary sodium concentrations may exceed 50 mEq/L. With this rate of salt loss, the infant cannot maintain blood volume, and [[hyponatremia|hyponatremic]] [[dehydration]] begins to develop by the end of the first week of life. [[Potassium]] and [[acid]] excretion are also impaired when [[mineralocorticoid]] activity is deficient, and [[hyperkalemia]] and [[metabolic acidosis]] gradually develop. Ability to maintain circulation is further limited by the effect of cortisol deficiency. The early symptoms are spitting and poor weight gain, but most infants with severe CAH develop vomiting, severe dehydration, and circulatory collapse ([[Shock (medical)|shock]]) by the second or third week of life.
 
===Childhood onset (simple virilizing) CAH===
Mutations that result in some residual 21-hydroxylase activity cause milder disease, traditionally termed '''simple virilizing CAH''' (SVCAH). In these children the [[mineralocorticoid]] deficiency is insignificant and salt-wasting does not occur. The [[androgen]] excess is mild enough that [[virilization]] is not apparent or goes unrecognized at birth and in early childhood. However, androgen levels are above normal and slowly rise during childhood, producing noticeable effects between 2 and 9 years of age.
 
===Late onset (nonclassical) CAH===
Other alleles result in even milder degrees of hyperandrogenism that may not even cause problems in males and may not be recognized until adolescence or later in females. Mild androgen effects in young women may include [[hirsutism]], acne, or [[anovulation]] (which in turn can cause [[infertility]]). Testosterone levels in these woman may be mildly elevated, or simply above average.


==References==
==References==

Revision as of 13:09, 4 September 2015

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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]

Overview

History and Symptoms

Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia

The two most serious neonatal consequences of 21-hydroxylase deficiency occur when there is minimal measurable hydroxylase activity from prenatal life: severe virilization of female infants and life-threatening salt-wasting crises in the first month of life for XX and XY infants alike.

Testosterone levels in these woman may be mildly elevated, or simply above average.

References


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