Heike Biebermann, Gunnar Kleinau, Dirk Schnabel, Detlef Bockenhauer, Louise C Wilson, Ian Tully, Sarah Kiff, Patrick Scheerer, Monica Reyes, Sarah Paisdzior, John W Gregory, Jeremy Allgrove, Heiko Krude, Michael Mannstadt, Thomas J Gardella, Mehul Dattani, Harald Jüppner, Annette Grüters
CONTEXT: The α subunit of the stimulatory G protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, whereas somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright syndrome. OBJECTIVE: We report two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function...
April 1, 2019: Journal of Clinical Endocrinology and Metabolism