In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 55, No. 4 ( 2001), p. 196-200
Abstract:
Albright’s hereditary osteodystrophy (AHO) is a rare inherited disease characterized by skeletal abnormalities, short stature, and, in some cases, resistance to parathyroid hormone, resulting in pseudohypoparathyroidism (PHP). Heterozygous inactivating mutations of the 〈 i 〉 GNAS1 〈 /i 〉 gene are responsible for reduced activity of the alpha subunit of the Gs protein (G 〈 sub 〉 Sα 〈 /sub 〉 ), a protein that mediates hormone signal transduction across cell membranes. G 〈 sub 〉 sα 〈 /sub 〉 is also known to have oncogenic potentials, leading to the development of human pituitary tumors and Leydig cell tumors. Here, we report the 1st case, a 3.5-year-old girl, with classic AHO phenotype and PHP type 1A associated with a cerebellar pilocytic astrocytoma. Coincidence or genetic relationships of both diseases are discussed according to molecular findings and current literature.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2001
detail.hit.zdb_id:
2540224-9