Congenital Adrenal Hyperplasia — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Is a systematic adrenocorticotropic hormone (ACTH) stimulation test useful in diagnosing nonclassical congenital adrenal hyperplasia (NCAH)?
Ferreira Bénédicte et al. — Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology (31 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41999208/
- 2.
Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells.
Fu Ru et al. — Journal of enzyme inhibition and medicinal chemistry (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41495987/
- 3.
Advances in pharmacological treatment for congenital adrenal hyperplasia.
Graves Lara E et al. — Current opinion in pediatrics (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42234636/
- 4.
Psychosocial retrospective follow-up of young adults with congenital adrenal hyperplasia.
Ekbom Kerstin et al. — European journal of endocrinology (2 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42391497/
- 5.
[Transition in Differences of Sex Development (DSD): From Human Being to Person].
Schröder Anne-Nele et al. — Aktuelle Urologie (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42385749/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
Recruiting — Phase 3 — Crinetics Pharmaceuticals Inc.
https://clinicaltrials.gov/study/NCT07144163
- 2.
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
Recruiting — Phase 2 — Crinetics Pharmaceuticals Inc.
https://clinicaltrials.gov/study/NCT07159841
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia is a group of inherited conditions affecting the adrenal glands, most commonly caused by 21-hydroxylase deficiency. It disrupts cortisol and aldosterone production and can cause virilisation. It is detected through newborn screening in Australia. Lifelong hormone replacement therapy is the cornerstone of management.
Most Recent Research
The ACTH stimulation test is the gold standard for diagnosing NCAH. However, this test has a human and material cost. While some teams perform it as a second-line test, others use it as a first-line test to avoid false negatives associated with single basal 17-hydroxyprogesterone (17-OHP) serum levels. In this prospective, single-center, cross-sectional observational study, we included 210 women aged from 15 to 41 who were referred for oligoanovulation and/or hyperandrogenism from November 2022 to June 2024. In this population, we determined the proportion of false negatives for NCAH using basal 17-OHP serum levels by performing ACTH stimulation tests. Among the 210 patients included, no NCAH was diagnosed, and no false negatives of basal 17-OHP serum levels were identified. Basal 17-OHP serum levels were significantly higher in PCOS patients but remained below the 2 ng/ml threshold and were significantly correlated with hormonal and ultrasound markers of PCOS. Consequently, the systematic use of the ACTH stimulation test in women with hyperandrogenism and/or oligoanovulation does not appear to be a cost-effective diagnostic strategy.
Common Questions
What is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia is a group of inherited conditions affecting the adrenal glands, most commonly caused by 21-hydroxylase deficiency. It disrupts cortisol and aldosterone production and can cause virilisation. It is detected through newborn screening in Australia. Lifelong hormone replacement therapy is the cornerstone of management.
How many clinical trials are available for Congenital Adrenal Hyperplasia?
RareWays currently indexes 64 clinical trials for Congenital Adrenal Hyperplasia, of which 13 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Congenital Adrenal Hyperplasia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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