Living with Leydig cell hypoplasia
A condition affecting male sexual development because Leydig cells in the testes are underdeveloped.
Understanding Leydig cell hypoplasia
Leydig cells make male sex hormones (androgens). People with a typical male chromosome pattern (46,XY) may have a small penis, hypospadias, or a divided scrotum. In more severe cases, external genitals look female, testes are small and undescended, and puberty changes do not develop. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitals that don't look clearly male or female
- Small penis (micropenis)
- Hypospadias
- Low testosterone
- No puberty changes (secondary sex characteristics)
- No periods (primary amenorrhea)
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 and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); 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
It is caused by changes in genes. GARD does not name a specific gene or inheritance pattern.
Also known as: 46,xy disorder of sex development due to lh resistance or lhb deficiency; 46,xy disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,xy dsd due to lh resistance or lhb deficiency; 46,xy dsd due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; hypoplasia of the leydig cells; leydig cells hypoplasia
Patient organizations
- InterConnectLeydig cell hypoplasia · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Leydig cell hypoplasia.
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