Survival without treatment of patients with classic and non-classic 21-hydroxylase deficiency
Clicks: 6
ID: 322846
2026
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
0.0
/100
6 views
0 readers
AI Quality Assessment
Not analyzed
Readership in this journal
Ranked #34 of 359 articles by views in the journal of clinical endocrinology & metabolism
Most read
Least read
Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 359 in total.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
CONTEXT: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is characterized by cortisol and aldosterone deficiency and hyperandrogenism. Historically, patients have been classified into salt-wasting (SW), simple-virilizing (SV), and the less severe non-classic (NC) form. Standard treatment for patients with classic 21OHD (SW and SV) consists of glucocorticoid and sometimes mineralocorticoid replacement to prevent adrenal crises. Interestingly, some patients were untreated due to delayed diagnosis or stopped treatment and survived without overt signs of adrenal insufficiency. OBJECTIVE: Describe a cohort of patients with 21OHD who survived without glucocorticoid treatment, with particular focus on sickness, surgical interventions, and adrenal crises. DESIGN: Observational study. SETTING: Multicenter retrospective open cohort study. PATIENTS: Patients with classic (SW, n=29; SV, n=23) and NC (n=24) 21OHD, with a median age of 11.0 and 21.7 years, respectively. RESULTS: Patients with classic and NC 21OHD were untreated with glucocorticoid for 8.7 years (IQR 4.7-14.3) and 28.1 years (IQR 12.2-39.0), respectively (p<0.001). Of patients with classic 21OHD, 48% never received glucocorticoid treatment. Remarkably, 71% of them did not experience adrenal crises during the untreated period, even during illness or surgical interventions. In the NC 21OHD group, 21% was never treated with glucocorticoid, two patients (8.3%) experienced an adrenal crisis, both had an I2 splice/P31L genotype. All adrenal crises, except one, were reported before the age of 7 years. CONCLUSIONS: Study on untreated patients with 21OHD provides valuable opportunity to further explore mechanisms that influence glucocorticoid activity and elucidate disease variability in 21OHD.
| Reference Key |
openalex_W7171549284
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | Bas P H Adriaansen, Agustini Utari, Eddy Chandra, Henrik Falhammar, Walter Bonfig, María Clemente, Nina Lenherr‐Taube, Renata Markosyan, Mirela Costa de Miranda, Paul N. Span, Fred C.G.J. Sweep, Antonius E. van Herwaarden, Hedi L. Claahsen‐van der Grinten |
| Journal | the journal of clinical endocrinology & metabolism |
| Year | 2026 |
| DOI |
10.1210/clinem/dgag298
|
| URL | |
| Keywords | Keywords not found |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.