osteodystrophia fibrosa

McCune-Albright syndrome

An autosomal dominant condition (OMIM:174800) due to altered regulation of cAMP, endocrinopathy (e.g., hyperthyroidism) and hypophosphatemia.
Clinical findings
Precocious puberty, polyostotic (cystic fibrous dysplasia) spontaneous fractures at young age, café-au-lait spots on skin, ovarian cysts.

Lab
Cyclical 4–6-week fluctuations of plasma oestrogen; afflicted young girls have decreased gonadotropins, decreased response to LH-RH; increased testosterone, increased alkaline phosphatase.

Molecular pathology
Defects in GNAS, which encodes a G protein that modulates various membrane signalling cascasdes, cause McCune-Albright syndrome.
Management
Aromatase inhibitor testolactone.

单词	osteodystrophia fibrosa
释义	osteodystrophia fibrosa McCune-Albright syndrome An autosomal dominant condition (OMIM:174800) due to altered regulation of cAMP, endocrinopathy (e.g., hyperthyroidism) and hypophosphatemia. Clinical findings Precocious puberty, polyostotic (cystic fibrous dysplasia) spontaneous fractures at young age, café-au-lait spots on skin, ovarian cysts. Lab Cyclical 4–6-week fluctuations of plasma oestrogen; afflicted young girls have decreased gonadotropins, decreased response to LH-RH; increased testosterone, increased alkaline phosphatase. Molecular pathology Defects in GNAS, which encodes a G protein that modulates various membrane signalling cascasdes, cause McCune-Albright syndrome. Management Aromatase inhibitor testolactone.
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