Living with Cortisone reductase deficiency
A rare hormone condition that raises male-type hormones, causing early puberty signs in boys and irregular periods in women.
Understanding Cortisone reductase deficiency
The low cortisol leads the body to make too much of male-type hormones (androgens) from the adrenal glands. Boys can show early pseudopuberty in childhood. Girls and women can have extra hair growth (hirsutism), irregular or missing periods, and infertility, usually appearing in adolescence and early adulthood. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High male-type hormone levels (androgens)
- Irregular periods
- High blood pressure
- Congenital adrenal hyperplasia
- Abnormal hormone 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 women’s reproductive health specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition. It doesn't name a gene. Inheritance may be autosomal dominant (one changed copy is enough) or autosomal recessive (a changed copy from each parent).
Also known as: 11-beta-hydroxysteroid dehydrogenase deficiency type 1; cortrd; crd; deficiency of (r)-20-hydroxysteroid dehydrogenase; deficiency of cortisone reductase; hyperandrogenism due to cortisone reductase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cortisone reductase deficiency.
Explore research for Cortisone reductase deficiency
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