<unk>  is a rare autosomal recessive and usually the most severe form of congenital adrenal hyperplasia. In 1865, Luigi De Crecchio, an Italian pathologist was the first who described Congenital adrenal hyperplasia.<unk>  congenital adrenal is characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion. This disease is caused by gene mutation that codes a protein called steroid acute regulatory protein (StAR) and helps cholesterol transport from the outer to the inner mitochondrial membrane. On microscopic histopathological analysis, progressive accumulation of cholesterol esters are characteristic findings of<unk> .<unk>  must be differentiated from diseases with primary amenorrhea. Some of these causes include androgen insensitivity syndrome, 3 beta-hydroxysteroid dehydrogenase deficiency, 17 alpha-hydroxylase deficiency,  gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome. Symptoms can be sever hypotension due to adrenal crisis. Because of lack of androgen production male infants usually have female external genitalia, presenting with primary amenorrhea. Female infants have normal genitalia normally developed at birth and occasional patients undergo spontaneous puberty. Symptoms can be sever hypotension due to adrenal crisis. Laboratory findings in<unk>  are: low cortisol levels, low aldosterone levels, high plasma ACTH concentrations, and high plasma renin activity. High serum gonadotropin levels are seen due to gonadal steroid synthesis impairment. On abdominal CT scan,<unk>  is characterized by bilateral symmetric enlargement of the adrenal glands.<unk>  is fatal in infancy period in two-thirds of reported patients. Replacement therapy with glucocorticoids and mineralocorticoids has been reported in a few cases. The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.
Lipoid congenital adrenal hyperplasia
Congenital adrenal hyperplasia
X-linked adrenal hypoplasia congenita
Kallmann syndrome
Kostmann syndrome
Congenital hyperinsulinism
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2