case 8 boy, 4 yo multiple cutaneous and subcutaneous hard resistances
DESCRIPTION
Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances. Laboratory: normocalcemia ↑serum parathyroid hormone ↑ thyroid-stimulating hormone ↑ human calcitonin. GNAS gene. Mutation E268X in GNAS gene. ?. Plaque-like osteoma Albright hereditary osteodystrophy. - PowerPoint PPT PresentationTRANSCRIPT
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Case 8
Boy, 4yo Multiple cutaneous and subcutaneous
hard resistances
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Laboratory:
normocalcemia
↑serum parathyroid hormone
↑ thyroid-stimulating hormone↑ human calcitonin
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GNAS gene
Mutation E268X in GNAS gene
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?
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Plaque-like osteoma
Albright hereditary osteodystrophy
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ALBRIGHT´S HEREDITARY OSTEODYSTROPHY
• Pseudohypoparathyroidism (PHP) types: Ia, Ib, Ic and II
• AHO: PHP IaPHP IcPseudopseudohypoparathyroidism (PPHP)
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Mother 25 y. Son 4y.
Biochemistry:
Normal ↑: PTH, TSH, CT, PO43-
↓: fT4, GTnormo: Ca2+
GNAS mutation
Exon 10, E268X (c.802G>T) Exon 10, E268X (c.802G>T)
Pseudopseudohypoparathyroidism Pseudohypoparathyroidism Ia
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1995
calcifying aponeurotic fibroma-like lesion
(mother)
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