ArticleThe Journal of clinical investigation2000
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
Article in The Journal of clinical investigation, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 194 citations in OpenAlex.
- Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.Orphanet journal of rare diseases · 2023Article
- Brain nuclear receptors and cardiovascular function.Cell & bioscience · 2023Review
- Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review.Experimental and therapeutic medicine · 2022Article
- Case Report: A Novel Truncating Variant ofFrontiers in endocrinology · 2022Article
- Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases ofFrontiers in endocrinology · 2022Article
- Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism.Journal of the Endocrine Society · 2021Article
- Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.BMC endocrine disorders · 2020Article
- Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation inThe Journal of international medical research · 2020Article
- Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clinical endocrinology · 2020Review
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Farnesoid X receptor alpha (FXRα) is a critical actor of the development and pathologies of the male reproductive system.Cellular and molecular life sciences : CMLS · 2019Review
- Identification and Functional Analysis of SixJournal of the Endocrine Society · 2019Article
- Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Pituitary · 2017Article
- Genetic disorders of nuclear receptors.The Journal of clinical investigation · 2017Review
- A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.Endocrinology, diabetes & metabolism case reports · 2017Article
- X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.International journal of endocrinology · 2016Article
- DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Best practice & research. Clinical endocrinology & metabolism · 2015Review
- Article
- NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.Journal of applied genetics · 2013Article
- X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.Journal of medical case reports · 2012Article
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). In affected boys, primary adrenal insufficiency occurs soon after birth or during early childhood; HHG is recognized at the expected time of puberty. In this report, we describe the novel phenotype of a man who presented with apparently isolated adrenal insufficiency at 28 years of age. Examination revealed partial pubertal development and undiagnosed incomplete HHG. Gonadotropin therapy did not improve his marked oligospermia, suggesting a concomitant primary testicular abnormality. Genomic analysis revealed a novel missense mutation, I439S, in DAX1. The mutant DAX-1 protein was studied for its ability to function as a transcriptional repressor of target genes. Consistent with the patient's mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC. This unique case extends the clinical spectrum of AHC to include delayed-onset primary adrenal insufficiency in adulthood and milder forms of HHG. Furthermore, in accordance with findings in Ahch (Dax1) knockout mice, the clinical features in this patient suggest that DAX-1 function is required for spermatogenesis in humans, independent of its known effects on gonadotropin production.
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