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Deficiency of 21-hydroxylase in children. causes, treatment, symptoms. If this form is diagnosed but not treated, a life-threatening adrenal crisis can develop with vomiting, diarrhea, hypoglycemia, hypovolemia, and shock. Very young female infants with the salt-wasting form have ambiguous vulva with an enlarged clitoris fused with the labia majora and urogenital sinus rather than separate urethral and vaginal openings. Male babies usually have normal sexual development. When the enzyme deficiency is much milder, newborns have little or no virilization.
Routine neonatal screening usually includes measuring the serum level of 17-hydroxyprogesterone. If the level is elevated, the diagnosis is confirmed by detecting low blood levels of deoxycortisol, cortisol, deoxycorticosterone, corticosterone and detecting high blood levels of dehydroepiandrosterone and androstenedione. For patients who develop symptoms later, ACTH stimulation testing may help, but genotyping may also be required. In children with the salt-wasting form, levels of deoxycorticosterone, corticosterone, and aldosterone are low, and renin levels are high. Urinary levels of metabolites or precursors of acivir (eg, pregnanetriol) and androgens (eg, 17-ketosteroids) are also high, but rarely necessary to buy acyclovir cream online a diagnosis.
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Maintenance treatment with corticosteroids as a replacement for steroid deficiency. Dexamethasone is used only in post-pubertal adolescents and adults. Overtreatment with corticosteroids causes iatrogenic Cushing's disease, leading to obesity, subnormal growth and delayed skeletal maturation. Undertreatment results in a failure to order acivir cream ACTH with subsequent hyperandrogenism causing virilization and abnormal growth rates in children and eventually premature growth failure.
Diagnosis of 21-hydroxylase deficiency in children. Treatment of 21-hydroxylase deficiency in children. Replacement therapy with corticosteroids. Replacement therapy with mineralocorticoids (salt-wasting form). Reconstructive surgery is possible. Maintenance therapy for the salt-wasting form, in addition to corticosteroids, consists of mineralocorticoid replacement therapy to restore sodium and potassium homeostasis. Oral fludrocortisone is used if salt loss occurs. Infants often require additional oral salt intake for about 1 year. Careful monitoring during therapy is critical.