Document Detail

Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.
MedLine Citation:
PMID:  16514244     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected fetuses are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging. METHODS: We describe the familial transmission of AHC over several generations. The proband was diagnosed with adrenal insufficiency at age 3.5 years: molecular analysis revealed a novel, 373-bp deletion including the second exon of DAX-1. Given the familial history of several unexplained deaths in male infants related to the proband via his maternal great-grandmother, we hypothesized that all these boys had been affected with AHC. Another female member of the family being pregnant with a male fetus at the time, we performed DAX-1 analysis on the mother and the newborn. The mother was heterozygous for the deletion, and the newborn hemizygous: he presented an adrenal crisis at 10 days of life, and is now doing well on hormone replacement therapy. CONCLUSION: The unfortunate deaths of male infants at each generation of this family underlie the importance of early and precise diagnosis of this rare condition, stressing the value of genetic diagnosis in six potential female carriers of this family entering their reproductive years.
Sandrine Ostermann; Roberto Salvi; Mariarosaria Lang-Muritano; Marie-Jeanne Voirol; Rudolf Puttinger; Rolf C Gaillard; Eugen Schoenle; François P Pralong
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hormone research     Volume:  65     ISSN:  0301-0163     ISO Abbreviation:  Horm. Res.     Publication Date:  2006  
Date Detail:
Created Date:  2006-05-18     Completed Date:  2006-06-27     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  163-8     Citation Subset:  IM    
Service of Endocrinology, University Hospital, Lausanne, Switzerland.
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MeSH Terms
Adrenal Insufficiency / congenital*,  diagnosis*,  etiology
Base Sequence
DAX-1 Orphan Nuclear Receptor
DNA / analysis,  genetics
DNA-Binding Proteins / deficiency*,  genetics
Deficiency Diseases / complications,  diagnosis*,  genetics*
Exons / genetics
Genetic Diseases, X-Linked / diagnosis
Hormone Replacement Therapy
Polymerase Chain Reaction
Prenatal Diagnosis*
Receptors, Retinoic Acid / deficiency*,  genetics
Repressor Proteins / genetics
Sequence Deletion / genetics
Reg. No./Substance:
0/DAX-1 Orphan Nuclear Receptor; 0/DNA-Binding Proteins; 0/NR0B1 protein, human; 0/Receptors, Retinoic Acid; 0/Repressor Proteins; 9007-49-2/DNA

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