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DR. ISRAR LIAQUAT SR. PEDIATRICS HFH
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It is an autosomal recessive disorder. Characterize by deficiency of different adrenal hormones ( cortisol & aldosterone), resulting in increase ACTH, which leads to adrenocortical hyperplasia. There are different varieties of CAH.
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Its commonest cause of CAH. Involve in more than 90% cases. Occurs in about 1 in 15000-20000 births. 70% have salt losing form (Both cortisol and aldosterone deficient). 30% have simple virilizing disease.
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Cholesterol Pregnenolone 17-OH Pregnenolone 17-OH progesterone Cortisol Progesterone Deoxycortisone Aldosterone Dehydroepiandrosterone Testosterone Estradiol 21 hydroxylase PATHOPHYSIOLOGY Ambigous genitalia
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Infants with CAH typically present within 2 weeks of age with: Vomiting Lethargy Inability to take feed Dehydration Failure to gain weight Shock Females has Ambiguous Genitalia. Males appear normal.
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Absent scrotum & testes Enlarge clitorisCommon Urinary & Vaginal opening
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Serum electrolytes shows Hyponatremia & hyperkalemia. Hypoglycemia. ABG’S shows Metabolic acidosis. Serum 17-0H-Progesterone levels are high. Serum cortisol and aldosterone levels are low.
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Serum ACTH and Renin levels are high. 21- hydroxylase is deficient. Pelvic ultrasonography/ MRI to evaluate for presence or absence of uterus and ovaries. Karyotyping to determine the genetic sex of the infant
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It is also possible by analysis of fetal DNA for various genes mutations causing CAH obtained by chorionic villus samplings. It also helps in determination of gender of developing fetus which is important for prenatal treatment of CAH.
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Newborn screening is important for males It helps to identify babies with CAH before development of adrenal crisis. It can be done after 72 hours of life. Blood levels of 17-OH Progesterone are checked which are high in affected babies.
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Glucocorticoid (cortisol) is replaced orally with hydrocortisone 15-20mg/m 2 /24hr TDS. (or Prednisolone 2mg/m 2 /day) Treatment is life long. Adequacy of treatment is assessed by measuring 17-OH progesterone levels in blood.
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Mineral corticoid ( aldosterone) is replaced orally with fludrocortisone at the dose of 0.1-0.3 mg once or twice daily. Serum electrolytes and plasma renin level are checked for monitoring adequacy of treatment.
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Surgical treatment usually follows sex assignments of child. Overvirilized females usually undergo surgery between 4-12 months of age. Clitoral resection, vaginoplasty and correction of urogenital sinus done.
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Main goal is to prevent development of ambiguous genitalia in affected female babies. Dexamethasone is given at 6 weeks of gestation. Later Chronic villous sampling done to analyze fetal DNA. Treatment is continued only in affected female.
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These patients are regularly followed up. Resolution of sign & symptoms. Blood pressure Growth monitoring & tanner staging. Complication of disease and treatment. Serum electrolytes and 17-OH Progesterone Bone age is checked annually. Compliance is ensured. Consultation with pediatric surgeon.
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Adrenal crisis and death Arrhythmias Short stature Malnutrition Sexual dysfunction Precocious puberty Infertility Hypertension Weight gain
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Prognosis is usually good in achieving normal height, puberty, sexual function and fertility with adequate medical and surgical treatment.
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THANKS
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