<unk>  consists of several disorders resulting from defective enzymes and proteins involved in steroid and cortisol synthesis pathways. Defects in steroid biosynthesis are caused by several genetic mutations and may lead to delayed puberty, precocious puberty or ambiguous genitalia in specific disorders. The decrease in cortisol level leads to the release of the inhibitory feedback on corticotropin (ACTH) production. The high ACTH level causes increase cortisol precursors and overproduction of other hormones. The most common cause of<unk>  is a 21-hydroxylase deficiency, which accounts for more than 95% of cases. Other causes include 17 alpha-hydroxylase deficiency, 11β-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, Cytochrome P450-oxidoreductase (POR) deficiency (ORD), and congenital lipoid<unk><unk> .
Congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia
Congenital hypothyroidism
Congenital hyperinsulinism
Kallmann syndrome
Kostmann syndrome
Hypopituitarism
Secondary adrenal insufficiency