Living with 3 beta-Hydroxysteroid dehydrogenase deficiency
An inherited condition that affects hormone-making glands and can change sexual development and body salt levels.
Understanding 3 beta-Hydroxysteroid dehydrogenase deficiency
It affects the gonads (ovaries and testes) and the adrenal glands, so people lack many hormones. It is one type of congenital adrenal hyperplasia. There are salt-wasting, non-salt-wasting, and non-classic types. In males, the opening of the urethra may be on the underside of the penis, or the genitals may not look clearly male or female. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Congenital adrenal hyperplasia
- Genital differences (ambiguous genitalia)
- Hypospadias (urethra opening on underside of penis)
- Dehydration
- Low blood pressure
- Low blood cortisol and aldosterone
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 HSD3B2 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 HSD3B2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 3 beta-hsd deficiency; 3-beta hsd deficiency; 3-beta-hsd deficiency; 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia; 3b-hydroxysteroid dehydrogenase deficiency; adrenal hyperplasia ii
Patient organizations
- CARES Foundation3 beta-Hydroxysteroid dehydrogenase deficiency · United States
- National Adrenal Diseases Foundation3 beta-Hydroxysteroid dehydrogenase deficiency · United States
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