Cited by 210Adrenal Hormones and DisordersSexual Differentiation and DisordersHormonal Regulation and Hypertension

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Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

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Lin, Lin, Gu, Wen-Xia, Ozisik, Gokhan, To, Wing S., Owen, Catherine J., Jameson, J. Larry, Achermann, John C.·2006·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2006-0603PMC PMC1865080

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Abstract

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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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.
ORCID: Jameson, J. Larry
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
DOI: 10.1210/jc.2006-0603
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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Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

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