Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variant
Authors' conclusion
Mild P450scc deficiency due to p.R451W variant in the CYP11A1 gene is associated with late onset PAI with variable MC and sex hormone deficiency. The growth is consistent with genetic potential, and pubertal onset and progression are normal in affected patients, while long-term follow-up is required with regard to the risk of gonadal failure.
Study context
- Population
- Patients with homozygous CYP11A1 c.1351C > T (p.R451W) variant (mild P450scc deficiency), tertiary pediatric endocrinology centers16 males · 16 families
- Participants
- 22 patients
- Outcome
- Long-term growth, pubertal development, and adrenal and gonadal functions
Methodological detailsmulticentre, tertiary pediatric endocrinology centers
- Multicentre
- Tertiary pediatric endocrinology centers
Main finding
As reported in the abstract
mean follow-up 7.8 ± 5.2 years (range: 0.5-17.9 years)
- Primary adrenal insufficiency (PAI) present in all cases
- 22
- Mineralocorticoid (MC) deficiency detected
- 20 patients (83%)
- MC deficiency recovered during follow-up
- 2 cases
- Salt-wasting crisis during acute illness in patient with no MC deficiency at presentation
- 1 patient
- Atypical genitalia in 46,XY cases
- 0
- Micropenis (46,XY)
- 3
- Cryptorchidism (46,XY)
- 1
- Required sex steroid therapy for subsequent hypergonadotropic hypogonadism
- 2 patients
Observational data: associations, not effects.
Further findings
Age at presentation
- Median age at presentation 4.8 ± 4.2 years (range: 1-14.6 years)
Diagnosis during family screening
- Diagnosed during family screening
- 3 patients
Original publication
Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variant. Eur J Endocrinol. Published 24 June 2026. doi:10.
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