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Start free with EleplanInherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ORPHA:289548Disease
What it is
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
44- Abnormality of cholesterol metabolism
- Abnormality of prenatal development or birth
- Abnormality of the Leydig cells
- Abnormal sex determination
- Abnormal urine potassium concentration
- Absence of secondary sex characteristics
- Acidosis
- Adrenocorticotropic hormone excess
- Agenesis of corpus callosum
- Ambiguous genitalia, male
- Aplasia of the uterus
- Cryptorchidism
- Decreased circulating aldosterone level
- Decreased circulating androgen level
- Decreased circulating cortisol level
- Decreased fertility
- Decreased testicular size
- Dehydration
- Delayed puberty
- Delayed skeletal maturation
- Failure to thrive
- Feeding difficulties
- Female external genitalia in individual with 46,XY karyotype
- Generalized bronze hyperpigmentation
- Generalized hyperpigmentation
- Gynecomastia
- Hyperkalemia
- Hypernatriuria
- Hyponatremia
- Hypotension
- Hypovolemia
- Increased circulating ACTH level
- Increased circulating renin level
- Induced vaginal delivery
- Low maternal serum estriol
- Male pseudohermaphroditism
- Neonatal hypoglycemia
- Osteoporosis
- Primary adrenal insufficiency
- Reduced bone mineral density
- Renal salt wasting
- Sex reversal
- Urogenital sinus anomaly
- Vomiting
Common30–79%
4These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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