Overview
46,XY difference of sex development (DSD) due to impaired androgen production is a group of rare conditions where a person has male chromosomes (46,XY) but their body cannot make enough male sex hormones (androgens), particularly testosterone and dihydrotestosterone (DHT). Because these hormones are essential for the development of male reproductive organs during pregnancy, babies born with this condition may have genitalia that appear female, ambiguous (not clearly male or female), or incompletely masculinized. The degree of difference depends on how severely androgen production is affected. This condition can be caused by problems in several steps of the hormone-making pathway. Enzymes needed to convert cholesterol into testosterone may not work properly due to genetic changes. Some forms also affect the production of other important hormones made by the adrenal glands, which can lead to additional health concerns like salt-wasting crises or low cortisol levels. Treatment depends on the specific underlying cause and may include hormone replacement therapy, surgical options for genital differences, and psychological support. Gender identity should be carefully considered, and decisions about surgery or hormone treatment are ideally made with input from a multidisciplinary team including endocrinologists, surgeons, psychologists, and the patient and family. Early diagnosis and ongoing care are important for physical health and emotional well-being. Common synonyms include 46,XY DSD due to defective androgen synthesis.
Also known as:
Key symptoms:
Ambiguous genitalia at birthGenitalia that appear more female despite having male chromosomesUndescended testiclesSmall or underdeveloped penis (micropenis)Hypospadias (urethral opening not at the tip of the penis)Lack of typical male puberty changesBreast development at puberty in some formsInfertilityAbsent or irregular menstrual periods if raised femalePossible adrenal insufficiency (low cortisol, salt-wasting) in some formsUnexpected masculinization at puberty in some formsFatigue and low energy if adrenal hormones are also affectedEmotional distress related to gender identity or body differences
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableVoraxaze
VORAXAZE is indicated to reduce toxic plasma methotrexate concentration (greater than 1 micromole per liter) in adult and pediatric patients with delayed methotrexate clearance (plasma methotrexate co…
VORAXAZE is indicated to reduce toxic plasma methotrexate concentration (greater than 1 micromole per liter) in adult and pediatric patients with delayed methotrexate clearance (plasma methotrexate concentrations greater than 2 standard deviations of the mean methotrexate excretion curve specific for the dose of methotrexate administered) due to impaired renal function
Clinical Trials
View all trials with filters →No actively recruiting trials found for 46,XY difference of sex development due to impaired androgen production at this time.
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Specialists
View all specialists →No specialists are currently listed for 46,XY difference of sex development due to impaired androgen production.
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 46,XY difference of sex development due to impaired androgen production.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 is the specific enzyme or gene deficiency causing my child's condition?,Are the adrenal glands also affected, and does my child need cortisol or salt-retaining hormone replacement?,What hormone treatments will be needed now and at puberty?,What are the recommendations regarding any surgical procedures, and can these decisions be delayed?,What is the risk of gonadal tumors, and how should we monitor for this?,What are the options for fertility in the future?,Can you refer us to a psychologist experienced with differences of sex development?
Common questions about 46,XY difference of sex development due to impaired androgen production
What is 46,XY difference of sex development due to impaired androgen production?
46,XY difference of sex development (DSD) due to impaired androgen production is a group of rare conditions where a person has male chromosomes (46,XY) but their body cannot make enough male sex hormones (androgens), particularly testosterone and dihydrotestosterone (DHT). Because these hormones are essential for the development of male reproductive organs during pregnancy, babies born with this condition may have genitalia that appear female, ambiguous (not clearly male or female), or incompletely masculinized. The degree of difference depends on how severely androgen production is affected.
At what age does 46,XY difference of sex development due to impaired androgen production typically begin?
Typical onset of 46,XY difference of sex development due to impaired androgen production is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for 46,XY difference of sex development due to impaired androgen production?
1 patient support program are currently tracked on UniteRare for 46,XY difference of sex development due to impaired androgen production. See the treatments and support programs sections for copay assistance, eligibility, and contact details.