Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy.
Heterozygous inactivating mutations in the Gs alpha gene cause Albright's hereditary osteo-dystrophy (AHO). Consistent with the observation that only maternally inherited mutations lead to resistance to hormone action (pseudohypoparathyroidism type Ia [PHP-Ia), recent studies have provided evidence for a predominant maternal origin of Gs alpha transcripts in endocrine organs, such as thyroid, gonad and pituitary. Accordingly, patients with PHP-Ia display variable degrees of resistance to parathyroid hormone (PTH), thyroid stimulating hormone (TSH), gonadotropins and growth hormone (GH) releasing hormone (GHRH). Although the incidence and the clinical and biochemical characteristics of PTH and TSH resistance have been widely investigated and described, the cause and significance of the reproductive dysfunction in AHO is still poorly understood. The clinical finding of alterations of GH secretion in these patients was described for the first time only 2 years ago. The present report briefly reviews the literature focusing on the actual knowledge about these last two subjects.
Mantovani
Giovanna
G
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Milan, Italy.
Spada
Anna
A
D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000378:metabolism* / Q000503:physiopathology; D006062:Gonadotropins / Q000378:metabolism*; D013006:Growth Hormone / Q000378:metabolism; D013007:Growth Hormone-Releasing Hormone / Q000378:metabolism*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000378:metabolism; D040582:Inheritance Patterns; D008297:Male; D011547:Pseudohypoparathyroidism / Q000145:classification / Q000150:complications / Q000378:metabolism / Q000503:physiopathology; D013972:Thyrotropin / Q000378:metabolism
D006062:Gonadotropins; D013972:Thyrotropin; D013006:Growth Hormone; D013007:Growth Hormone-Releasing Hormone