MOLECULAR STUDY X-LINKED CONGENITAL ADRENAL HIPOPLASIA (NR0B1 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4241

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
X-linked adrenal hypoplasia congenita (X-linked AHC) is characterized by infantile-onset acute adrenal insufficiency at an average age of three weeks in approximately 60% of affected individuals. Onset in approximately 40% is in childhood. A few individuals present in adulthood with infertility. Adrenal insufficiency typically presents acutely with vomiting, feeding difficulty, dehydration, and shock caused by a salt-wasting episode. Primary adrenal failure characterized by hyponatremia, hyperkalemia, acidosis, and an elevated serum concentration of ACTH in the presence of normal or low serum concentration of 17-hydroxyprogesterone presenting in a male in the first month of life strongly suggests X-linked AHC. Males with such findings may have: 1) a contiguous gene deletion including the glycerol kinase gene (GK) with or without deletion of DMD, the gene encoding dystrophin (~1/3 of all affected individuals); 2) isolated AHC with a positive family history consistent with X-linked inheritance (~1/3 of affected individuals); or 3) isolated AHC with a negative family history (~1/3 of affected individuals). Individuals with a contiguous gene deletion can be identified by fluorescent in situ hybridization (FISH) using a NR0B1 (DAX1) cosmid probe or other deletion/duplication testing methods. Such testing is clinically available. Nearly 100% of affected individuals with a positive family history consistent with X-linked inheritance have an identifiable mutation in NR0B1, the only gene known to be associated with X-linked adrenal hypoplasia congenita. Between 50% and 70% of males with AHC who have no other affected family members have an identifiable mutation in NR0B1.
Links:
OMIM Entry - # 300018 - 46,XY SEX REVERSAL 2; SRXY2
OMIM Entry - # 300200 - ADRENAL HYPOPLASIA, CONGENITAL; AHC
X-Linked Adrenal Hypoplasia Congenita - GeneReviews™ - NCBI Bookshelf
OMIM Entry - - 300473 - NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

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