5‑Alpha Reductase Deficiency — a practical guide
If you or someone you care about has been told they have 5‑alpha reductase deficiency, you probably have straightforward questions: what caused it, what to expect, and what to do next. This short guide explains the condition in plain language and lists the steps to get the right care.
What it is and how it happens
5‑alpha reductase deficiency is a genetic condition that lowers the body’s ability to make dihydrotestosterone (DHT). DHT is a male hormone made from testosterone. It shapes male genital development before birth and helps some changes at puberty.
The condition usually comes from changes (mutations) in the SRD5A2 gene and is passed down in an autosomal recessive way. That means a child gets the condition when both parents carry a faulty copy of the gene.
Typical signs in people with XY chromosomes include partially or fully undervirilized external genitalia at birth, a small or hidden penis, and a scrotum that may look more like female genitalia. At puberty, some people develop more male features — a deeper voice, muscle growth, and increased body hair — because the body makes testosterone even if DHT is low.
Diagnosis and what to do next
To confirm the diagnosis, doctors use blood tests to check testosterone and DHT levels and may calculate the testosterone:DHT ratio. A clear diagnosis often comes from genetic testing that looks for SRD5A2 changes.
If a baby is born with atypical genitalia, move quickly but calmly: get an endocrine (hormone) consult and a genetics referral. Avoid rushed decisions about surgery or gender assignment until specialists give clear guidance and the family has time to get counseling.
Treatment depends on age, anatomy, and personal or family choices. Options include:
- Medical follow‑up with an endocrinologist for hormone monitoring.
- Hormone therapy if needed to support puberty or genital growth.
- Genital surgery only after careful discussion — many teams delay irreversible surgery until the person can consent.
- Psychological support and peer groups to help with identity and social questions.
Fertility is possible in some people because sperm production can be normal, but fertility may vary. A fertility specialist can explain options, including assisted reproduction, if needed.
Practical next steps: get genetic testing, book an appointment with a pediatric or adult endocrinologist, talk to a urologist or surgeon about timing (not urgent in most cases), and find a counselor or support group. If you live in Africa, ask your general practitioner to refer you to regional university hospitals or specialist clinics — they often have links to genetic testing services or international labs.
Questions to ask your doctor: What tests do you recommend? What are the risks and benefits of early surgery? How will hormones affect puberty? Is genetic counseling available for our family? Keep notes and bring a trusted person to appointments.
This condition can feel overwhelming, but clear tests and a team approach make decisions easier. Focus on getting accurate tests and specialist support before making permanent choices.
