A 12-year-old boy presents with muscle cramps, paresthesias, and a history of developmental delay. Vital signs: BP 118/76 mmHg, HR 88 bpm, RR 16/min, Temp 37°C, SpO2 98% on room air. Physical examination reveals short fourth and fifth metacarpals bilaterally and mild facial dysmorphism. Laboratory studies demonstrate serum calcium 7.2 mg/dL, phosphate 5.8 mg/dL, and PTH 156 pg/mL. Thyroid function tests are normal. Which of the following is the most likely diagnosis?

  1. A)DiGeorge syndrome
  2. B)PseudohypoparathyroidismGABARITO
  3. C)Primary hyperparathyroidism
  4. D)Vitamin D deficiency
  5. E)Hypoparathyroidism after thyroid surgery

Explicação

Pseudohypoparathyroidism is end organ resistance to PTH with Albright hereditary osteodystrophy. Shortened metacarpals are a classic clue. Ver explicação completa e trilha adaptativa →

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