Living with Deficiency of steroid 11-beta-monooxygenase
A form of congenital adrenal hyperplasia in which the adrenal glands make too many male sex hormones.
Understanding Deficiency of steroid 11-beta-monooxygenase
The adrenal glands sit on top of the kidneys and make hormones. In this condition they produce too many androgens (male sex hormones). There are classic and non-classic types, and the classic type is more severe. Girls with the classic type have genitals that do not look clearly male or female.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitals that do not look clearly male or female
- Early puberty
- Advanced bone age
- Acne
- Enlarged clitoris
- Low renin level in blood tests
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 CYP11B1 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
CARES Foundation and 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: CARES Foundation, 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 CARES Foundation and other patient organizations
- 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 CYP11B1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 11-beta-hydroxylase deficiency; 11-beta-hydroxylase-deficient congenital adrenal hyperplasia; adrenal hyperplasia iv; adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency; adrenogenital disorder due to 11-beta-hydroxylase deficiency
Patient organizations
- CARES FoundationDeficiency of steroid 11-beta-monooxygenase · United States
- National Adrenal Diseases FoundationDeficiency of steroid 11-beta-monooxygenase · United States
- The MAGIC FoundationDeficiency of steroid 11-beta-monooxygenase · United States
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Perspectives from people navigating life with Deficiency of steroid 11-beta-monooxygenase.
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