Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder.
Mutation on NROB1 (DAX1) gene can cause different phenotypes of adrenal insufficiency in infancy. Long-term evolution of these patients shows that it is possible to have an association with hypogonadotropic hypogonadism. In this article we describe the evolution of a patient with NROB1 gene mutation, diagnosed with a mild form of adrenal insufficiency, and we highlight the presence of hypogonadotropic hypogonadism and short stature, besides the presence of attention deficit disorder. Such associations should make physicians aware during the follow-up of patients with this disease.
Luis Eduardo P
LE
Calliari
Mylene N
MN
Rocha
Milene N
MN
Rocha
Osmar
O
Monte
Carlos Alberto
CA
Longui
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000309:Adrenal Insufficiency / Q000235:genetics*; D001289:Attention Deficit Disorder with Hyperactivity / Q000503:physiopathology*; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010413:Penis / Q000254:growth & development; D013739:Testosterone / Q000008:administration & dosage
D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human; D013739:Testosterone