infertility pediatrics diagnosis pocus pulmonary peds pathophysiology newborn symptoms genetics

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2 results

Prader-Willi Syndrome: Pathogenesis and clinical findings
• Maternal uniparental disomy: inheriting 2 copies of maternal chromosome

Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... sleep apnea, cor pulmonale ... #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

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