Congenital adrenal hyperplasia with saline crisis in a newborn

Abstract

Background: Adrenal steroidogenesis is a complex and sequential process that involves a series of enzymes that act on cholesterol and determine the synthesis of mineralocorticoids, glucocorticoids, androgens and estrogens. Congenital adrenal hyperplasia occurs in 1:9,500 to 1:20,000 live births as an autosomal recessive disorder that leads to a mutation in the genes that encode the enzymes for the biosynthesis process of adrenal steroids; more frequently, it is due to deficiency of the enzyme 21-alpha hydroxylase. Interventions include early neonatal screening to avoid salt wasting crises and neonatal death; hormone replacement therapy; psychological support and surgery options in specific cases for sex assignment. Case presentation: A 5-day-old, hypoactive neonate with no family history of genetic disease. Vital signs within normal parameters for age, physical examination of external genitalia on Prader 4, presence of phallus, scrotalized and hyperpigmented labia majora, no palpable gonads. Ultrasonography reports both adrenal glands enlarged, uterus is visualized, both ovaries are cystic, testicles are not observed. Hormonal profile: elevation of 17-alpha hydroxyprogesterone, adrenocorticotropic, testosterone, and decrease in cortisol. Blood chemistry: normal creatinine, elevated Urea Nitrogen. Electrolytes: hyponatremia and hyperkalemia. It is managed with stress doses of steroids due to salt crisis with a good response. Conclusions: Congenital adrenal hyperplasia is a rare disorder but susceptible to early neonatal detection and treatment with hormone replacement therapy, specifically steroids, which has been shown to reduce the risk of serious complications.