[Primary suprarenal insufficiency and multiglandular atrophy in a patient affected by myotonic dystrophy].
We present the case of a 27 year old man diagnosed as having myotonic dystrophy (MD) who showed two novelties with respect to those endocrinopathies hitherto described as being associated with MD: primary suprarenal failure and pluriglandular atrophy (thyroid and suprarenal, in addition to the already known testicular type). We describe here the results of a clonic, hormonal and genetic study of the proband and his family (a carrier father and an affected brother). We discuss the possible etiopathogenesis of the picture which, in our opinion, could consist of an abnormality of the AMPc dependent protein-kinase, related to the MD gene (PKMD). Consequently intracellular signaling was altered after the union of peptide hormones (in our case ACTH, LH and TSH) to their receptor leading, through the lack of trophic stimulus, to glandular atrophy. We conclude that before diagnosing MD, it is convenient to add suprarenal study to the traditional evaluations of possible associated endocrinopathies.
Forga
L
L
Sección de Endocrinologia, Hospital de Navarra, Pamplona.
Rodríguez-Erdozain
R M
RM
Menéndez
E L
EL
Anda
E
E
Quesada-Jiménez
P
P
D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000328:Adult; D017868:Cyclic AMP-Dependent Protein Kinases / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000175:diagnosis; D007037:Hypothyroidism / Q000150:complications* / Q000175:diagnosis; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D051437:Renal Insufficiency / Q000150:complications* / Q000175:diagnosis; D013972:Thyrotropin / Q000378:metabolism
D000324:Adrenocorticotropic Hormone; D007986:Luteinizing Hormone; D013972:Thyrotropin; D017868:Cyclic AMP-Dependent Protein Kinases