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DAX1 Deficiency

MedGen UID:
891483
•Concept ID:
C4055166
•
Finding
Synonyms: Dosage Sensitive Sex Reversal - Adrenal Hypoplasia Congenita Critical Region on the X Chromosome 1 Deficiency; DSS-AHC Critical Region on the X Chromosome 1 Deficiency; NR0B1 Deficiency; Nuclear Receptor DAX1 Deficiency; Nuclear Receptor Subfamily 0 Group B Member 1 Deficiency

Definition

Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita that may be associated with hypogonadotropic hypogonadism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDAX1 Deficiency

Professional guidelines

PubMed

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.
Çamtosun E, Dündar İ, Akıncı A, Kayaş L, Çiftci N
J Clin Res Pediatr Endocrinol 2021 Feb 26;13(1):88-99. Epub 2020 Sep 17 doi: 10.4274/jcrpe.galenos.2020.2020.0132. PMID: 32938577Free PMC Article

Recent clinical studies

Clinical prediction guides

Leydig cell-specific expression of DAX1 improves fertility of the Dax1-deficient mouse.
Meeks JJ, Russell TA, Jeffs B, Huhtaniemi I, Weiss J, Jameson JL
Biol Reprod 2003 Jul;69(1):154-60. Epub 2003 Feb 19 doi: 10.1095/biolreprod.102.011429. PMID: 12606353

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