1Assistant Professor, Department of Pediatrics, SGT Medical College, Gurugram, Haryana, India
2Professor, Department of Pediatrics, SGT Medical College, Gurugram, Haryana, India
Congenital Adrenal Hyperplasia is a family of autosomal recessive disorders of cortisol biosynthesis. More than 90% of cases are due to 21-hydroxylasedeficiency. Salt wasting type of ‘classic’ 21-hydroxylasedeficiency is most severe form, which presents during the neonatal period and early infancy with adrenal insufficiency (absent glucocorticoid and mineralocorticoid activity). Simple virilizing form is less severe form of ‘classic’ 21-hydroxylase deficiency with retained mineralocorticoid activity. Females have genital ambiguity. We report here a case of 21 day old male newborn, who presented to us in shock which was resistant to routine resuscitative measures. Congenital Adrenal Hyperplasia was suspected and was diagnosed based on 17 hydroxyprogesterone levels.
Congenital adrenal hyperplasia, 21 hydroxylase deficiency 17-hydroxyprogesterone, Ambiguous genitalia Cortisol and Corticotropin
