Living with Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
A rare form of CAH with low cortisol and differences in genital development, ranging from severe in infancy to mild in adults.
Understanding Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
It includes low cortisol (a glucocorticoid), more male-like genital development in females and less in males. Some infants are severely affected. Some women are mildly affected and appear to have polycystic ovary syndrome, and some men have mild gonadal insufficiency. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differences in the external genitalia
- Low cortisol
- Enlarged adrenal glands
- Excess body hair in women (hirsutism)
- Reduced fertility
- Bone and elbow joint differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in POR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Adrenal Diseases Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: National Adrenal Diseases Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Adrenal Diseases Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the POR gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency; congenital adrenal hyperplasia due to cytochrome por deficiency; disordered steroidogenesis due to por deficiency; por deficiency; pord
Patient organizations
- National Adrenal Diseases FoundationCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency · United States
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