Living with Testosterone 17-beta-dehydrogenase deficiency
A genetic condition in which the body makes too little testosterone, affecting how the sex organs form before birth.
Understanding Testosterone 17-beta-dehydrogenase deficiency
People with this condition have XY chromosomes and testes, but their bodies make too little testosterone. Many are born with outer genitals that look female, and others have genitals that are not clearly male or female or look mostly male. At puberty, some male traits develop, such as more muscle and a deeper voice. Some people also have breast enlargement. People with this condition are generally unable to father children.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitals that look neither clearly male nor female
- Opening of the urethra on the underside of the penis (hypospadias)
- Undescended testes (cryptorchidism)
- Inguinal hernia
- Infertility
- Breast enlargement at puberty (gynecomastia)
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 HSD17B3 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
This condition is caused by changes in the HSD17B3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 17 alpha ketosteroid reductase deficiency of testis; 17 alpha ksr deficiency; 17 beta hsd3 deficiency; 17-beta hydroxysteroid dehydrogenase 3 deficiency; 17-beta hydroxysteroid dehydrogenase iii deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Patient organizations
- InterConnectTestosterone 17-beta-dehydrogenase deficiency · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Testosterone 17-beta-dehydrogenase deficiency.
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