Overview
46,XX difference of sex development-anorectal anomalies syndrome (also known as Perineal scrotal hypospadias-anorectal anomalies syndrome, or sometimes referred to as 46,XX DSD with anorectal malformations) is an extremely rare condition that affects how the body develops before birth. In this syndrome, a person has female chromosomes (46,XX) but is born with differences in the development of their genitalia, meaning the external sex organs may not look typically male or female. This is called a difference of sex development (DSD). In addition, these individuals have problems with the formation of the anus and rectum (anorectal anomalies), which can range from a narrowed anal opening to a completely absent or misplaced anus. Some affected individuals may also have other birth differences involving the urinary tract or kidneys. Because this condition is present at birth, it is usually noticed right away by doctors during the newborn examination. The combination of ambiguous genitalia and anorectal malformations requires a team of specialists to evaluate and manage. Treatment typically involves surgical correction of the anorectal anomalies to allow normal bowel function, as well as careful evaluation and sometimes surgical management of the genital differences. Hormone therapy and psychological support may also be part of long-term care. The exact genetic cause of this syndrome is not fully understood, and research is ongoing to better define the underlying mechanisms.
Key symptoms:
Ambiguous genitalia (sex organs that do not look clearly male or female)Absent or misplaced anal openingNarrowed anal passageAbnormal connection between the rectum and urinary tract or genitals (fistula)Underdeveloped or absent uterusAbnormal development of the scrotum or labiaHypospadias (urinary opening in an unusual position)Kidney or urinary tract abnormalitiesDifficulty passing stoolConstipationPossible genital skin differences
Clinical phenotype terms (15)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 46,XX difference of sex development-anorectal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for 46,XX difference of sex development-anorectal anomalies syndrome.
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,XX difference of sex development-anorectal anomalies syndrome.
Community
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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 type of anorectal anomaly does my child have, and what surgery is recommended?,How will the differences in sex development be evaluated and managed over time?,Will my child need hormone therapy, and if so, when would it start?,What kind of bowel management program will my child need after surgery?,Are there genetic tests that could help us understand the cause of this condition?,What psychological support services are available for our family?,What is the long-term outlook for bowel control and quality of life?
Common questions about 46,XX difference of sex development-anorectal anomalies syndrome
What is 46,XX difference of sex development-anorectal anomalies syndrome?
46,XX difference of sex development-anorectal anomalies syndrome (also known as Perineal scrotal hypospadias-anorectal anomalies syndrome, or sometimes referred to as 46,XX DSD with anorectal malformations) is an extremely rare condition that affects how the body develops before birth. In this syndrome, a person has female chromosomes (46,XX) but is born with differences in the development of their genitalia, meaning the external sex organs may not look typically male or female. This is called a difference of sex development (DSD). In addition, these individuals have problems with the formatio
At what age does 46,XX difference of sex development-anorectal anomalies syndrome typically begin?
Typical onset of 46,XX difference of sex development-anorectal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.