ArticleEndocrine2014
Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status?
Article in Endocrine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Pooled it
- Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase DeficiencyJournal of clinical research in pediatric endocrinology · 2025Review
- What is the need for adrenalectomy in patients with congenital adrenal hyperplasia in the era of CRF1/ACTH inhibitors?Frontiers in endocrinology · 2025Review
- Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency.Frontiers in endocrinology · 2024Review
- Review
- Congenital adrenal hyperplasia in patients with adrenal tumors: a population-based case-control study.Journal of endocrinological investigation · 2023Article
- Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series.Journal of clinical medicine · 2023Review
- Long-Term Outcomes of Congenital Adrenal Hyperplasia.Endocrinology and metabolism (Seoul, Korea) · 2022Review
- Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden.Frontiers in endocrinology · 2022Article
- Adrenal myelolipomas.The lancet. Diabetes & endocrinology · 2021Review
- Suspicious adrenal incidentaloma in a patient with Congenital Adrenal Hyperplasia: A case report.Urology case reports · 2021Article
- Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Endocrine · 2020Review
- Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia.Clinical endocrinology · 2019Article
- Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.Journal of the Endocrine Society · 2019Article
- Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.Endocrine · 2019Review
- Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.Endocrine · 2017Review
- Adrenocortical cancer: mortality, hormone secretion, proliferation and urine steroids - experience from a single centre spanning three decades.BMC endocrine disorders · 2016Article
- Biochemical and genetic diagnosis of 21-hydroxylase deficiency.Endocrine · 2015Review
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.Endocrine · 2015Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenal incidentalomas (AI) are an escalating clinical issue due to the increasing use of imaging techniques. Occasional patients with AIs have been reported who have subsequently been diagnosed with congenital adrenal hyperplasia (CAH) due to CYP21A2 mutations (21-hydroxylase deficiency) or carrier status. The objective of this investigation was to describe a larger cohort of patients with AI suspected to be caused by 21-hydroxylase deficiency or carrier status. All patients with AI and suspected CYP21A2 mutations during the last decade at a single center in Stockholm, Sweden, were included. Nine patients were identified (54 ± 19-year-old at presentation). Two-thirds were females and two-thirds were from Sweden, while one-third was from the Middle East. Almost all (8/9) had children, but two had experienced fertility problems. Four of six women had symptoms of hyperandrogenism, and three had previously been diagnosed with polycystic ovary syndrome. The majority (7/9) had multiple AIs. In two cases, the initial suspicion had been adrenal cortical cancer, but increased urinary pregnanetriol had lead to the diagnosis of CAH. Basal serum 17-hydroxyprogesterone was 10 (1.75-338) nmol/L. Seven was diagnosed with CAH (six non-classic, one simple virilizing). Two patients were considered to be carriers. However, in four patients, no CYP21A2 mutation was found and thus no confirmation of the diagnosis could be achieved. Patient presented with multiple AIs with hyperandrogenism or a Middle East origin screening for CAH or carrier status may be indicated.
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Registered trials
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