Congenital Adrenal Hyperplasia — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
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/
- 2.
Study on the reference intervals of six androgen "backdoor pathway" steroids in healthy Chinese adults.
Liu Yongqi et al. — Clinica chimica acta; international journal of clinical chemistry (15 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41730409/
- 3.
A phase-field model: Contact angle hysteresis driven by multistable surface composition.
Zhang Hongmin et al. — Journal of colloid and interface science (15 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41505861/
- 4.
A hydrogen generator enhances immunogenic transarterial chemoembolization in hepatocellular carcinoma.
Cao Lei et al. — Journal of controlled release : official journal of the Controlled Release Society (10 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41655909/
- 5.
Birth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population.
Narawade Sharwari et al. — Indian journal of clinical biochemistry : IJCB (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41834932/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
Recruiting — Phase 2 — Crinetics Pharmaceuticals Inc.
https://clinicaltrials.gov/study/NCT07159841
- 2.
A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
Recruiting — Phase 3 — Crinetics Pharmaceuticals Inc.
https://clinicaltrials.gov/study/NCT07144163
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
We recently observed a significantly higher level of renalase (RNLS) in aldosterone-producing adenomas (APAs) than in the APA-adjacent adrenal glands (AAGs). RNLS is a flavin adenine dinucleotide-dependent monoamine oxidase. In this study, we investi-gated the effect of RNLS on adrenocortical aldosterone production. RNLS upregulated aldosterone production in adrenocortical cells without interfering with cell proliferation. RNLS (4 μg/ml) increased the mRNA expression of HSD3B2 (p = 0.0128) and CYP21A2 (p = 0.0013) and markedly stimulated that of CYP11B2 (p < 0.0001). Regarding the mechanism, we excluded classical calcium signalling stimulation and found that RNLS activated cAMP/PKA signalling and then upregulated the transcription factor NR4A2 and the phosphorylation of ATF/CREB family members. Immunofluorescence and immuno-precipitation results revealed that RNLS bound to the receptor PMCA4b on the cell membrane, with siPMCA4b preventing RNLS from exerting pro-aldosterone production (p = 0.0157, RNLS+siPMCA4b vs RNLS+siNC). RNLS facilitates aldosterone secretion and may emerge as a hazardous molecule for promoting aldosterone-mediated pathological conditions.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.