BACKGROUND/AIMS: @entity5343 (AI) is an important cause of morbidity in @entity1 . Our objectives were: (1) to describe the clinical presentation of @entity1 with new-onset primary AI, and (2) to identify monogenic causes of primary AI in @entity1 . METHODS: Chart review and mutation detection in candidate genes were conducted for 11 @entity1 with primary AI. RESULTS: The likely cause of AI was determined in 9 @entity1 . One had a homozygous @entity4787 mutation associated with @entity19934 . Two had the same homozygous mutation in the @entity11115 gene which is associated with type 1 @entity12010 . One @entity1 had a heterozygous change in this gene of undetermined significance. Five were homozygous for the previously reported @entity69572 @entity624 mutation causing nonclassic @entity41095 , representing the largest cohort of such @entity1 from a single geographic area. In the remaining 2 @entity1 , no clear etiology was identified. CONCLUSIONS: We recommend genetic testing for @entity1 who have negative anti-adrenal antibodies or suggestive family history. Diagnosing a genetic etiology can provide information about prognosis and treatment, and is therefore beneficial for @entity1 . Our high proportion of @entity1 with nonclassic @entity41095 likely represents a founder effect.

Primary XXXX Case Series: Genetic Etiologies More Common than Expected.

@entity1 :: ('9606', 'Species') :: ['children', 'patients', 'patient'] @entity19934 :: ('MESH:C564577', 'Disease') :: ['familial glucocorticoid deficiency'] @entity624 :: ('6770', 'Gene') :: ['STAR'] @entity69572 :: ('p|SUB|R|188|C', 'ProteinMutation') :: ['p.R188C'] @entity4787 :: ('4158', 'Gene') :: ['MC2R'] @entity5343 :: ('MESH:D000224', 'Disease') :: ['Primary adrenal insufficiency'] @entity12010 :: ('MESH:D016884', 'Disease') :: ['autoimmune polyglandular syndrome'] @entity11115 :: ('326', 'Gene') :: ['AIRE'] @entity41095 :: ('MESH:C537027', 'Disease') :: ['lipoid congenital adrenal hyperplasia']
@entity5343 :: (MESH:D000224,Disease) :: ['Adrenocortical Insufficiency']
