[A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease].
A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of primary pigmented nodular adrenocortical disease (PPNAD). The treatment for patients with PPNAD is bilateral adrenalectomy and hormone substitution. PPNAD may be part of the Carney complex, an autosomal dominant multiple neoplasia syndrome. Screening of family members is mandatory. Further investigation for mutations in the gene encoding the regulatory subunit 1A of the protein kinase A (PRKAR1A) may be helpful.
Bocca
G
G
VU Medisch Centrum, Amsterdam. g.bocca@bkk.umcg.nl
van Mil
E G A H
EG
Voorhoeve
P G
PG
Wijnaendts
L C D
LC
Delemarre-van de Waal
H A
HA
D000303:Adrenal Cortex Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000315:Adrenalectomy; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D002648:Child; D003480:Cushing Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics; D003907:Dexamethasone; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000150:complications; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000652:urine; D009154:Mutation
D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D017868:Cyclic AMP-Dependent Protein Kinases; D006854:Hydrocortisone