11 Beta-Hydroxylase Deficiency
- Decreased Cortisol
- Decreased Aldosterone
- Increased Sex Hormones
- Increased 11 Deoxycorticosterone (11 DOC)
- Hypertension
- Masculinization
17 Alpha Hydroxylase Deficiency
- Decreased Cortisol
- Decreased Sex Hormones
- Increased Mineralocorticoids (DOC)
- Hypertension
- Hypokalemia
- XY Externally Phenotypic Female
- No Internal Reproductive Structures Due to Mullerian Inhibitory Factor
- XX Externally Phenotypic Female
- Sexual Infantilism
21 Hydroxylase Deficiency
- Decreased Cortisol
- Increased 17 Hydroxyprogesterone
- Decreased Aldosterone
- Hypotension
- Increased Renin
- Hyperkalemia
- Female Pseudohermaphroditism
Vitamin D Deficiency
- Rickets in children
- Bending bones
- Rachitic rosary
- Breast milk has decreased vitamin D
- Osteomalacia in adults
- Tetany from Hypocalcemia
Osteopetrosis (Marble Bone Disease)
- Defective Osteoclast Resorption
- Carbonic Anhydrase II Mutation
- Lack of Acidic Environment
- Fractures
- Nerve Palsies
- Myelophthisic Anemia
- Erlenmeyer Flask Bones
- Normal ALP and PTH
- Normal Calcium and Phosphorus
- Bone-in-bone Appearance
- Bone Marrow Transplant
Adrenoleukodystrophy
- X-linked Recessive
- Peroxisome Dysfunction
- ABCD1 Mutation
- Adrenal Insufficiency
- Leukoencephalopathy
- Testicular Insufficiency
- Increased Very Long-chain Fatty Acids (VLCFA)
- Demyelination
- Genetic Testing
- Lorenzo's Oil
- Hematopoietic Stem Cell Transplantation
Fludrocortisone
- Aldosterone Analog
- Addison’s Disease (Primary Adrenal Insufficiency)
- Congenital Adrenal Hyperplasia
- Cushing Syndrome
- Edema
- Congestive Heart Failure Exacerbation
- Hyperpigmentation