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Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience
Open accessAbstract
CONTEXT: Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) play an important role in adrenal development and function, and mutations in these transcription factors have been found in patients with adrenal hypoplasia. OBJECTIVE: Our objective was to investigate the prevalence of DAX1 and SF1 mutations in children and adults with primary adrenal failure of unknown etiology (i.e. not caused by congenital adrenal hyperplasia, adrenoleukodystrophy, or autoimmune disease). PATIENTS: One hundred seventeen patients were included. Eighty-eight individuals presented in infancy or childhood with adrenal hypoplasia or primary adrenal failure of unknown etiology (n = 64 46,XY phenotypic males; n = 17 46,XY gonadal dysgenesis/impaired androgenization; n = 7 46,XX females). Twenty-nine individuals presented in adulthood with Addison's disease of unknown etiology. METHODS: Mutational analysis of DAX1 (NR0B1) (including exon 2alpha/1A) and SF1 (NR5A1) was done by direct sequencing. RESULTS: DAX1 mutations were found in 58% (37 of 64) of 46,XY phenotypic boys referred with adrenal hypoplasia and in all boys (eight of eight) with hypogonadotropic hypogonadism and a family history suggestive of adrenal failure in males. SF1 mutations causing adrenal failure were found in only two patients with 46,XY gonadal dysgenesis. No DAX1 or SF1 mutations were identified in the adult-onset group. CONCLUSIONS: DAX1 mutations are a relatively frequent cause of adrenal failure in this group of boys. SF1 mutations causing adrenal failure in humans are rare and are more likely to be associated with significant underandrogenization and gonadal dysfunction in 46,XY individuals.
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“However, SF1 mutations have not been found in phenotypic males with adrenal hypoplasia or adrenal steroidogenic defects (613).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [613]
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“About half of boys with AHC present with salt loss and glucocorticoid insufficiency in early infancy; the rest present more insidiously with chronic adrenal insufficiency throughout childhood (613).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [613]
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“About two thirds of boys with AHC have DAX1 point mutations; the other one third have DAX1 gene deletions either in isolation or as part of a contiguous gene deletion syndrome involving a telomeric X-linked mental retardation locus (IL1RAPL1) and/or centromeric loci for glycerol kinase deficiency and sometimes ornithine transcarbamylase and Duchenne muscular dystrophy (612, 613).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [613]
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Self-citationRole of Ahch in gonadal development and gametogenesis
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Self-citationKnockout Mice Lacking Steroidogenic Factor 1 Are a Novel Genetic Model of Hypothalamic Obesity
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Nuclear Receptor Coregulators and Human Disease
Lonard, D. M., Lanz, R. B., & O’Malley, B. W. (2007) · Endocrine Reviews · doi:10.1210/er.2007-0012 · Cited by 318
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
Suntharalingham, J. P., Buonocore, F., Duncan, A. J., & Achermann, J. C. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2015.07.004 · Cited by 233
Self-citationLin, L., Philibert, P., Ferraz‐de‐Souza, B., Kelberman, D., Homfray, T., Albanese, A., Molini, V., Sebire, N. J., Einaudi, S., Conway, G. S., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1672 · Cited by 210
Self-citationGuran, T., Buonocore, F., Saka, N., Ozbek, M. N., Aycan, Z., Bereket, A., Bas, F., Darcan, S., Bideci, A., Guven, A., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3250 · Cited by 207
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Metadata
- Authors
- Lin, L., Gu, W.-X., Ozisik, G., To, W. S., Owen, C. J., Jameson, J. L., & Achermann, J. C.
- Affiliations
- University College London (GB)
- Northwestern University (US)
- Division of Endocrinology and Metabolism (G.O.), Gulhane Askeri Tip Akademisi Medical School, Haydarpasa Hospital, Istanbul 34670, Turkey
- Newcastle University (GB)
- Corresponding author
- Achermann, John C.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2006-08-01
- Volume
- 91
- Issue
- 8
- Pages
- 3048-3054
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC1865080
- OpenAlex
- W2027675368
- Cited by
- 210
- References
- 59
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 7 · 2023: 7 · 2022: 11 · 2021: 18 · 2020: 9 · 2019: 10 · 2018: 18 · 2017: 9 · 2016: 11 · 2015: 11 · 2014: 2 · 2013: 7 · 2012: 14
- FWCI
- 7.92
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust (068061)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD044801)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- DAX-1, NR0B1, steroidogenic factor 1, adrenal hypoplasia, Addison's disease, 46,XY gonadal dysgenesis, hypogonadotropic hypogonadism, adrenal development
- MeSH terms
- Adolescent, Adrenal Insufficiency, Adult, Aged, Child, Child, Preschool, DNA Mutational Analysis, DNA-Binding Proteins, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Repressor Proteins, Transcription Factors, Frameshift Mutation, Gene Deletion, Receptors, Cytoplasmic and Nuclear, Receptors, Retinoic Acid, Codon, Nonsense, Homeodomain Proteins, Mutation, Missense, Steroidogenic Factor 1, DAX-1 Orphan Nuclear Receptor
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