BACKGROUND: @entity13601 congenita is a rare cause of @entity5343 ( @entity5343 ) in @entity1 due to mutations in @entity2539 /DAX1 (nuclear receptor subfamily 0, group B, member 1/ @entity13419 at the critical region of the X chromosome, gene 1). Another rare cause of @entity5343 in @entity1 is @entity792 ( @entity792 ) which could be either isolated or as part of @entity12010 . Antibody to major auto-antigen, 21-hydroxylase, is highly specific for @entity792 . METHODS: We report a now 19-month-old male with @entity5343 due to @entity2539 gene mutation and positive adrenal antibodies. Initially, he presented at 15 days of life with @entity13591 which later unfolded into complete @entity5343 . Data analysis was done via retrospective chart review. RESULTS: Genetic analysis of the @entity2539 gene revealed a known hemizygous mutation in @entity68446 ; @entity68447 . Simultaneously, he was noted to have positive 21-hydroxylase antibodies. CONCLUSION: According to our knowledge, this is the first case in the literature with @entity2539 mutation causing @entity1887 with coexistent positive adrenal antibodies. In addition to his already compromised adrenal function due to @entity2539 mutation, he is now at risk for the development of associated autoimmune conditions requiring close follow-up.

Presence of 21-Hydroxylase Antibodies in a @entity1 with XXXX .

@entity1 :: ('9606', 'Species') :: ['children'] @entity13601 :: ('MESH:C536757', 'Disease') :: ['X-linked adrenal hypoplasia'] @entity68446 :: ('c|SUB|C|1069|T', 'DNAMutation') :: ['c.1069C>T'] @entity13419 :: ('MESH:C535601', 'Disease') :: ['dosage-sensitive sex reversal-adrenal hypoplasia congenita'] @entity1887 :: ('MESH:D000309', 'Disease') :: ['adrenal insufficiency'] @entity2539 :: ('190', 'Gene') :: ['NR0B1'] @entity5343 :: ('MESH:D000224', 'Disease') :: ['primary adrenal insufficiency', 'PAI'] @entity12010 :: ('MESH:D016884', 'Disease') :: ['autoimmune polyglandular syndrome'] @entity68447 :: ('p|SUB|Q|357|X', 'ProteinMutation') :: ['p.Gln357X'] @entity13591 :: ('MESH:D006994', 'Disease') :: ['isolated hypoaldosteronism'] @entity792 :: ('MESH:D001327', 'Disease') :: ['AAD', 'autoimmune adrenal disease']
@entity13601 :: (MESH:C536757,Disease) :: ['X-Linked Adrenal Hypoplasia Congenita']
