Overview
Leydig cell hypoplasia due to LHB deficiency is an extremely rare genetic condition that affects sexual development. It is caused by mutations in the LHB gene, which provides instructions for making the beta subunit of luteinizing hormone (LH). LH is a hormone produced by the pituitary gland in the brain that plays a critical role in sexual development and reproduction. In males, LH signals special cells in the testes called Leydig cells to produce testosterone. When the LH beta subunit is absent or not working properly, Leydig cells do not receive the signal they need to develop and function, leading to very low testosterone levels. In affected males, this condition typically presents at birth or during puberty. Newborn males may have ambiguous genitalia or undermasculinized external genitalia, which falls under the category of differences of sex development (DSD). During puberty, affected individuals may fail to develop typical male secondary sexual characteristics such as facial hair, deepening of the voice, and muscle development. Affected females may experience delayed puberty and infertility but generally have less severe symptoms. Treatment focuses on hormone replacement therapy, particularly testosterone supplementation in males, to promote the development of secondary sexual characteristics and support bone health. Fertility treatment may also be considered, though achieving fertility can be challenging. Early diagnosis and appropriate hormonal management can significantly improve quality of life.
Also known as:
Key symptoms:
Ambiguous genitalia at birth in malesUnderdeveloped male genitaliaFailure to go through puberty normallyAbsent or very small testesLack of facial and body hair developmentVoice that does not deepen during pubertyLow muscle massInfertilityLow testosterone levelsAbsent or irregular menstrual periods in femalesDecreased bone densityMicropenisUndescended testes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Leydig cell hypoplasia due to LHB deficiency.
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Specialists
View all specialists →No specialists are currently listed for Leydig cell hypoplasia due to LHB deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Leydig cell hypoplasia due to LHB deficiency.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What hormone replacement therapy is recommended and when should it start?,How will we monitor my child's growth and pubertal development over time?,What are the options for fertility in the future?,Should other family members be tested for carrier status?,Are there any surgical procedures that may be needed?,What psychological support services are available for our family?,How often will blood tests and bone density scans be needed?
Common questions about Leydig cell hypoplasia due to LHB deficiency
What is Leydig cell hypoplasia due to LHB deficiency?
Leydig cell hypoplasia due to LHB deficiency is an extremely rare genetic condition that affects sexual development. It is caused by mutations in the LHB gene, which provides instructions for making the beta subunit of luteinizing hormone (LH). LH is a hormone produced by the pituitary gland in the brain that plays a critical role in sexual development and reproduction. In males, LH signals special cells in the testes called Leydig cells to produce testosterone. When the LH beta subunit is absent or not working properly, Leydig cells do not receive the signal they need to develop and function,
How is Leydig cell hypoplasia due to LHB deficiency inherited?
Leydig cell hypoplasia due to LHB deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.