Overview
46,XY difference of sex development (DSD) due to a cholesterol synthesis defect is a rare condition in which a person who has male chromosomes (46,XY) does not develop typical male physical features because of a problem in how the body makes cholesterol. Cholesterol is a building block the body needs to produce hormones, including testosterone and other sex hormones that guide male development before birth. When there is a defect in the cholesterol production pathway, the body cannot make enough of these hormones, which can lead to differences in how the genitals and reproductive organs form. Affected individuals may be born with genitalia that appear female, ambiguous, or incompletely male, even though their chromosomes are typically male. This condition falls under a group of disorders known as differences of sex development (DSD). The underlying cholesterol synthesis defects can also affect other body systems, potentially causing growth problems, intellectual disability, and various birth defects depending on the specific enzyme that is impaired. Smith-Lemli-Opitz syndrome (SLOS) is one of the best-known examples of a cholesterol synthesis disorder that can cause 46,XY DSD. Treatment is supportive and depends on the specific diagnosis. It may include cholesterol supplementation, hormone therapy, surgical options for genital differences, and psychological support. A team of specialists is usually needed to provide comprehensive care throughout life.
Also known as:
Key symptoms:
Ambiguous or atypical genitalia at birthUndescended testesSmall penis or micropenisHypospadias (urethral opening in an unusual position)Growth delay or short statureFeeding difficulties in infancyIntellectual disability or learning difficultiesBehavioral challengesDistinctive facial featuresExtra fingers or toes (polydactyly)Fused toes (syndactyly of second and third toes)Heart defectsCleft palateKidney abnormalitiesSensitivity to sunlight
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 46,XY difference of sex development due to a cholesterol synthesis defect.
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Specialists
View all specialists →No specialists are currently listed for 46,XY difference of sex development due to a cholesterol synthesis defect.
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
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific cholesterol synthesis defect does my child have, and which gene is affected?,How severe is my child's condition, and what can we expect in terms of development?,Should my child take cholesterol supplements, and how do we monitor if they are working?,What specialists should be part of our care team?,How should we approach decisions about surgery or hormone therapy, and when?,Are there any clinical trials or new treatments being studied for this condition?,What psychological and social support resources are available for our family?
Common questions about 46,XY difference of sex development due to a cholesterol synthesis defect
What is 46,XY difference of sex development due to a cholesterol synthesis defect?
46,XY difference of sex development (DSD) due to a cholesterol synthesis defect is a rare condition in which a person who has male chromosomes (46,XY) does not develop typical male physical features because of a problem in how the body makes cholesterol. Cholesterol is a building block the body needs to produce hormones, including testosterone and other sex hormones that guide male development before birth. When there is a defect in the cholesterol production pathway, the body cannot make enough of these hormones, which can lead to differences in how the genitals and reproductive organs form.
How is 46,XY difference of sex development due to a cholesterol synthesis defect inherited?
46,XY difference of sex development due to a cholesterol synthesis defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 46,XY difference of sex development due to a cholesterol synthesis defect typically begin?
Typical onset of 46,XY difference of sex development due to a cholesterol synthesis defect is neonatal. Age of onset can vary across affected individuals.