6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... Infertility • Decr Bone ... pathophysiology #peds #pediatrics
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Deprivation • Primary ... • Congenital Adrenal ... Chemotherapy • Bone ... Diagnosis #Algorithm #endocrinology ... #causes #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-OHD in the adrenal ... as "congenital adrenal ... Signs/Symptoms/Complications ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Cushing's Syndrome - Hypercortisolism - Diagnosis and Clinical Features
1) Skin
 • Thin, easily bruisable skin with
Cushing's Syndrome ... not a feature of primary ... Imaging: 1) Primary ... Hypercortisolism #Diagnosis #signs ... #symptoms #endocrinology
Rheumatoid Arthritis - Signs and Symptoms
 • Ocular: Keratoconjunctivitis sicca, Episcleritis, Scleritis, Scleromalacia perforans
 • Pulmonary:
and Symptoms • ... Airways disease, Complications ... Pericarditis • Renal ... Bursa, Muscle, Bone ... Thrombocytosis, Felty's syndrome
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... hormone levels cause bones ... pathophysiology #diagnosis #signs ... #symptoms #psychiatry