Case 8

Boy, 4yo 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

ALBRIGHT´S HEREDITARY OSTEODYSTROPHY

• Pseudohypoparathyroidism (PHP) types: Ia, Ib, Ic and II

• AHO: PHP IaPHP IcPseudopseudohypoparathyroidism (PPHP)

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

1995

calcifying aponeurotic fibroma-like lesion

(mother)