Living with 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
An inherited condition, also called 5-alpha reductase deficiency, that affects sexual development before birth and during puberty.
Understanding 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
People with this condition have one X and one Y chromosome and testes, but their bodies do not make enough of a hormone called DHT. Before birth, this changes how the external sex organs form. Some babies have external genitalia that look female, some look male, and some do not look clearly male or female. At puberty, other changes such as a deeper voice and more muscle develop. Most people are unable to have biological children without assisted reproduction. GARD lists onset as a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitalia that are not clearly male or female
- Undescended testes (cryptorchidism)
- Hypospadias (urethra opening below the tip of the penis)
- Small penis or small scrotum
- Reduced fertility
- Little facial or body hair
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 SRD5A2 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
Resolve: The National Infertility Association 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: Resolve: The National Infertility Association
- 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 InterConnect 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 SRD5A2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency; 46,xy dsd due to 5-alpha-reductase 2 deficiency; 5 alpha steroid reductase 2 deficiency; familial incomplete male pseudohermaphroditism type 2; familial incomplete male pseudohermaphroditism, type 2; male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Patient organizations
- InterConnect3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency.
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