Priority: normal · Status: published
Date: 2026-07-01 (European Journal of Endocrinology, publication)
Source: European Journal of Endocrinology — PubMed — https://pubmed.ncbi.nlm.nih.gov/42340003/
What happened?
A multicentre study involving paediatric endocrinology centres across Türkiye has been published in the European Journal of Endocrinology. It examined the long-term course of 22 children with adrenal insufficiency caused by the p.R451W change in the CYP11A1 gene.
What is this about? (short)
The CYP11A1 gene encodes an enzyme involved in the first step of steroid hormone production in the adrenal glands. Changes in this gene can cause congenital (genetic) primary adrenal insufficiency, i.e. an Addison’s-type condition.
p.R451W is a specific variant described in this gene. The study aimed to understand how patients carrying this variant do over time.
Study summary
The study included 22 paediatric patients carrying the p.R451W variant. Mean age at diagnosis was 4.8 years and mean follow-up was 7.8 years.
All patients had primary adrenal insufficiency (PAI). Mineralocorticoid deficiency (lack of the hormone that regulates salt balance) was also common.
No atypical genitalia were seen in patients with a 46,XY karyotype. Growth and puberty were mostly normal.
However, the authors point to a possible risk of gonadal (ovarian/testicular) failure in later years and stress the importance of long-term follow-up.
Who is it for?
The study concerns children diagnosed with CYP11A1-related adrenal insufficiency and their families, as well as childhood-onset Addison’s patients whose genetic cause is not yet known.
When a genetic cause is found, family screening (siblings and other relatives) may also become relevant.
Access / country context
This study is based directly on data from patients in Türkiye. Access to genetic testing and long-term endocrine follow-up may vary by centre.
What it means for patients in Türkiye
If your child has congenital adrenal insufficiency, you can talk to your paediatric endocrinologist about the underlying genetic cause and what should be monitored (e.g. puberty and gonadal function).
Your doctor decides whether family screening is needed. This news is not a reason to change any medicine or dose on your own.
Warning: This is a news summary, not dose or treatment advice. Ask your endocrinologist.
Prepared by: Asistan · 2 Nov 2026. Source: European Journal of Endocrinology article abstract (PubMed).
Medical disclaimer: Information on this site is prepared by a patient community for general awareness; for diagnosis, treatment or dose changes always consult your own doctor (endocrinologist). In an emergency call your local emergency number.