Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: Coincidence or genetic relationship?

Albright's hereditary osteodystrophy (AHO) is a rare inherited disease char acterized by skeletal abnormalities, short stature, and, in some cases, res istance to parathyroid hormone, resulting in pseudohypoparathyroidism (PHP) . Heterozygous inactivating mutations of the GNAS1 gene are responsible for reduced activity of the alpha subunit of the Gs protein (G(S alpha)), a pr otein that mediates hormone signal transduction across cell membranes. G(S alpha) is also known to have oncogenic potentials, leading to the developme nt of human pituitary tumors and Leydig cell tumors. Here, we report the 1s t case, a 3.5-year-old girl, with classic AHO phenotype and PHP type 1A ass ociated with a cerebellar pilocytic astrocytoma. Coincidence or genetic rel ationships of both diseases are discussed according to molecular findings a nd current literature. Copyright (C) 2001 S. Karger AG, Basel.