Camptodactyly, thick lips, deep set eyes, prominant cupped ears
Trisomy 8
3 beta hydroxydtetoif deficiency
Hormone levels
Elevated:
Dehydroepiandrosterone and renin
Decreased:
17-OHP, 11-deoxycorticosterone, aldosterone
17alpha hydroxylase deficiency
Hormones
Elevated: 11-deoxycorticosterone, aldosterone
Decreased:
Dehydroepiandrosterone, renin
Variable: 17-OHP
Glucogenic amino acids
Alanine
Glycine
Glutamate
Aspartate
Cysteine
Proline
Ketogenic amino acids
Leucine
Lysine
Both glucogenic and ketogenic amino acids
Tyrosine
Isoleucine
Phenylalanine
Tryptophan