Living with Isolated lutropin deficiency
A genetic hormone condition from changes in the LHB gene, causing low sex hormone levels, delayed puberty, and fertility problems.
Understanding Isolated lutropin deficiency
The body has low levels of luteinizing hormone (LH), a hormone that helps the testicles and ovaries work. In males this can mean low testosterone and absent sperm. Both males and females can have delayed puberty. Females may have light or infrequent periods.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low luteinizing hormone (LH) level
- Low testosterone in males
- Absent sperm in semen (azoospermia)
- Delayed puberty
- Sparse pubic and armpit hair
- Light or infrequent periods
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.
- 3Consider genetic testing
Changes in LHB 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); 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 Resolve: The National Infertility Association
- 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 LHB gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 46,xy disorder of sex development due to lhb deficiency; 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,xy dsd due to lhb deficiency; 46,xy dsd due to luteinizing hormone subunit beta deficiency; fertile eunuch; fertile eunuch syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated lutropin deficiency.
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