International audienceBACKGROUND/AIMS: X-linked adrenal hypoplasia congenita (AHC) is typically characterized by a DAX-1 gene mutation and hypogonadotropic hypogonadism. However, rare cases with precocious puberty or normal puberty have been reported. Currently, the mechanism of action of the DAX-1 gene on puberty is not clearly known. CASE REPORT: We report a male who was diagnosed as having AHC in the newborn period and detected as having stop codon Q155 X mutation in the DAX-1 gene. This subject developed central precocious puberty when he was 9 months old. RESULTS: This paper is the first case report of AHC, central precocious puberty and a mutation in the DAX-1 gene. DAX-1 gene mutations can result in various phenotypes. CONCLUSION: In...
Adrenal hypoplasia congenita (AHC) is a hereditary disorder that leads to adrenal insufficiency and ...
OBJECTIVE: To analyze the DAX1 (NROB1) gene in Taiwanese families with adrenal hypoplasia congenita....
In tro duc ti on Primary adrenal insufficiency can be caused by a deficiency in steroid biosynthesis...
WOS: 000287770500012PubMed ID: 20975255Background/Aims: X-linked adrenal hypoplasia congenita (AHC) ...
X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex ...
Copyright © 2014 by Türkiye Klinikleri.X-linked adrenal hypoplasia congenita (AHC), an inherited dis...
WOS: 000318500400021PubMed ID: 23585174Patients with DAX-1 gene mutations on chromosome Xp21 usually...
OBJECTIVE: Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita cr...
Objective: Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal ...
Objective: Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal ...
AbstractBackground: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in DAX-1 (NR0...
In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AH...
X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disord...
Adrenal hypoplasia congenita (AHC) is an X-linked disorder characterized by primary adrenal insuffic...
X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to ...
Adrenal hypoplasia congenita (AHC) is a hereditary disorder that leads to adrenal insufficiency and ...
OBJECTIVE: To analyze the DAX1 (NROB1) gene in Taiwanese families with adrenal hypoplasia congenita....
In tro duc ti on Primary adrenal insufficiency can be caused by a deficiency in steroid biosynthesis...
WOS: 000287770500012PubMed ID: 20975255Background/Aims: X-linked adrenal hypoplasia congenita (AHC) ...
X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex ...
Copyright © 2014 by Türkiye Klinikleri.X-linked adrenal hypoplasia congenita (AHC), an inherited dis...
WOS: 000318500400021PubMed ID: 23585174Patients with DAX-1 gene mutations on chromosome Xp21 usually...
OBJECTIVE: Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita cr...
Objective: Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal ...
Objective: Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal ...
AbstractBackground: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in DAX-1 (NR0...
In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AH...
X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disord...
Adrenal hypoplasia congenita (AHC) is an X-linked disorder characterized by primary adrenal insuffic...
X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to ...
Adrenal hypoplasia congenita (AHC) is a hereditary disorder that leads to adrenal insufficiency and ...
OBJECTIVE: To analyze the DAX1 (NROB1) gene in Taiwanese families with adrenal hypoplasia congenita....
In tro duc ti on Primary adrenal insufficiency can be caused by a deficiency in steroid biosynthesis...