DR. ISRAR LIAQUAT SR. PEDIATRICS HFH

 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.

 Its commonest cause of CAH.  Involve in more than 90% cases.  Occurs in about 1 in births.  70% have salt losing form (Both cortisol and aldosterone deficient).  30% have simple virilizing disease.

Cholesterol Pregnenolone 17-OH Pregnenolone 17-OH progesterone Cortisol Progesterone Deoxycortisone Aldosterone Dehydroepiandrosterone Testosterone Estradiol 21 hydroxylase PATHOPHYSIOLOGY Ambigous genitalia

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.

Absent scrotum & testes Enlarge clitorisCommon Urinary & Vaginal opening

 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.

 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

 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.

 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.

 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.

 Mineral corticoid ( aldosterone) is replaced orally with fludrocortisone at the dose of mg once or twice daily.  Serum electrolytes and plasma renin level are checked for monitoring adequacy of treatment.

 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.

 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.

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.

 Adrenal crisis and death  Arrhythmias  Short stature  Malnutrition  Sexual dysfunction  Precocious puberty  Infertility  Hypertension  Weight gain

 Prognosis is usually good in achieving normal height, puberty, sexual function and fertility with adequate medical and surgical treatment.

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