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Genetic Mutation Case Study: Pseudohypoparathyroidism in a 4-Year-Old Boy

Explore a puzzling medical case of a 4-year-old boy with cutaneous resistances and genetic mutation in the GNAS gene, possibly leading to Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism. Laboratory findings reveal normocalcemia and abnormal hormone levels. Investigation includes plaque-like osteoma and a calcifying fibroma-like lesion in the mother.

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Genetic Mutation Case Study: Pseudohypoparathyroidism in a 4-Year-Old Boy

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  1. Case 8 Boy, 4yo Multiple cutaneous and subcutaneous hard resistances

  2. Laboratory: normocalcemia ↑serum parathyroid hormone ↑ thyroid-stimulating hormone ↑ human calcitonin

  3. GNAS gene Mutation E268X in GNAS gene

  4. ?

  5. Plaque-like osteoma Albright hereditary osteodystrophy

  6. ALBRIGHT´S HEREDITARY OSTEODYSTROPHY • Pseudohypoparathyroidism (PHP) types: Ia, Ib, Ic and II • AHO: PHP Ia PHP Ic Pseudopseudohypoparathyroidism (PPHP)

  7. Mother 25 y.Son 4y. Pseudopseudohypoparathyroidism Pseudohypoparathyroidism Ia Biochemistry: Normal↑: PTH, TSH, CT, PO43- ↓: fT4, GT normo: Ca2+ GNAS mutation Exon 10, E268X (c.802G>T) Exon 10, E268X (c.802G>T)

  8. 1995 calcifying aponeurotic fibroma-like lesion (mother)

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