Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
Sci Rep. 2021.
PMID: 34373561
Free PMC article.
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Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30.
Clin Endocrinol (Oxf). 2020.
PMID: 31610036
Free PMC article.
Review.
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficienc …
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst …
Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
Sci Rep. 2021 Aug 9;11(1):16066. doi: 10.1038/s41598-021-95642-y.
Sci Rep. 2021.
PMID: 34373561
Free PMC article.
Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR …
Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of …
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
Clin Endocrinol (Oxf). 2010 Apr;72(4):448-54. doi: 10.1111/j.1365-2265.2009.03652.x. Epub 2009 Jun 8.
Clin Endocrinol (Oxf). 2010.
PMID: 19508677
INTRODUCTION: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder caused by mutations or complete deletion of the NR0B1 gene that encodes the DAX-1 protein, an orphan member of the nuclear receptor superfamily. ...Genetic testing is indicated in boys pres …
INTRODUCTION: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder caused by mutations or complete deletion of the NR0B1 …
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of NR0B1 (DAX1) and Contiguous Gene.
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.
Ann Clin Lab Sci. 2023.
PMID: 37625843
X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. ...In genetic analysis, next-generation sequencing panel for congenital adrenal hyperplasia (CAH) showed no variants. However, chromosomal …
X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. ...In genetic analy …
[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].
Andes Pediatr. 2022 Aug;93(4):585-590. doi: 10.32641/andespediatr.v93i4.4019.
Andes Pediatr. 2022.
PMID: 37906859
Free article.
Spanish.
Objective: To describe a case of adrenal hypoplasia congenita secondary to a mutation in the NR0B1 gene and identified the differential diagnoses of the pediatric patient with adrenal insufficiency and hypogonadotropic hypogonadism. ...Adrenal hyper …
Objective: To describe a case of adrenal hypoplasia congenita secondary to a mutation in the NR0B1 gene and identified the dif …
A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.
Hormones (Athens). 2015 Jan-Mar;14(1):160-6. doi: 10.14310/horm.2002.1490.
Hormones (Athens). 2015.
PMID: 25402384
Free article.
OBJECTIVE: Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused …
OBJECTIVE: Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive …
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
J Korean Med Sci. 2013 Nov;28(11):1650-6. doi: 10.3346/jkms.2013.28.11.1650. Epub 2013 Oct 31.
J Korean Med Sci. 2013.
PMID: 24265530
Free PMC article.
Congenital adrenal insufficiency is caused by specific genetic mutations. ...Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylas …
Congenital adrenal insufficiency is caused by specific genetic mutations. ...Sixteen patients with confirmed genotyping were s …
Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.
Sex Dev. 2012;6(6):284-91. doi: 10.1159/000342295. Epub 2012 Sep 27.
Sex Dev. 2012.
PMID: 23018754
Free article.
There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. ...One patient …
There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism …
X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients.
Clin Endocrinol (Oxf). 2000 Aug;53(2):249-55. doi: 10.1046/j.1365-2265.2000.01038.x.
Clin Endocrinol (Oxf). 2000.
PMID: 10931108
Mutations of the DAX-1 gene, which encodes a newly discovered member of the nuclear hormone receptor family, were reported to cause X-linked congenital adrenal hypoplasia and hypogonadotrophic hypogonadism. While genetic data on DAX-1 are accumulating, information o …
Mutations of the DAX-1 gene, which encodes a newly discovered member of the nuclear hormone receptor family, were reported to cause X-linked …
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
J Med Genet. 2023 Dec 21;61(1):27-35. doi: 10.1136/jmg-2022-108952.
J Med Genet. 2023.
PMID: 37586839
BACKGROUND: Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. ...Patients were divided into four groups based on the underlying pathogenesis: (1) impaired steroidogenesis, (2) adrenal hypoplasia, (3) resistance to adrenocorticotropic horm …
BACKGROUND: Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. ...Patients were divided into four groups b …
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