4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
hypertension and signs ... renal bruit or signs ... Vasculitis • Endocrinologic ... Neurologic disorders ... dysautonomia, and Guillain-Barre
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... > Amenorrhea & Infertility ... #pathophysiology ... #diagnosis #signs