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Pediatrics | Medical (MD/DO) School Study Aid
Adrenoleukodystrophy
- Pathophysiology
- X-linked Recessive
- Peroxisome Dysfunction
- ABCD1 Mutation
- Presentation
- Adrenal Insufficiency
- Leukoencephalopathy
- Testicular Insufficiency
- Diagnosis
- Increased Very Long-chain Fatty Acids (VLCFA)
- Demyelination
- Genetic Testing
- Treatment
- Lorenzo's Oil
- Hematopoietic Stem Cell Transplantation
3 mins
11 Beta-Hydroxylase Deficiency
- Pathophysiology
- Decreased Cortisol
- Decreased Aldosterone
- Increased Sex Hormones
- Increased 11 Deoxycorticosterone (11 DOC)
- Signs and Symptoms
- Hypertension
- Masculinization
1 min
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
2 mins
21 Hydroxylase Deficiency
- Pathophysiology
- Decreased Cortisol
- Increased 17 Hydroxyprogesterone
- Decreased Aldosterone
- Signs and Symptoms
- Hypotension
- Increased Renin
- Hyperkalemia
- Female Pseudohermaphroditism
2 mins
Vitamin D Deficiency
- Signs & Symptoms
- Rickets in children
- Bending bones
- Rachitic rosary
- Breast milk has decreased vitamin D
- Osteomalacia in adults
- Tetany from Hypocalcemia
1 min
Osteopetrosis (Marble Bone Disease)
- Pathophysiology
- Defective Osteoclast Resorption
- Carbonic Anhydrase II Mutation
- Lack of Acidic Environment
- Symptoms
- Fractures
- Nerve Palsies
- Diagnosis
- Myelophthisic Anemia
- Erlenmeyer Flask Bones
- Normal ALP and PTH
- Normal Calcium and Phosphorus
- Bone-in-bone Appearance
- Treatment
- Bone Marrow Transplant
2 mins
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