46 Xx Disorder Of Sex Development Anorectal Anomalies Syndrome C4518078
A rare genetic syndrome affecting an XX individual, causing both differences in sexual development and anal-rectal abnormalities. It is congenital and severe. Surgical correction and long-term specialist care are typically required.
Key facts at a glance
- ICD-10
- Q55.9
- ICD-11
- LA00.0
- Body system
- reproductive
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Anal Atresia
Complete absence of anal opening present at birth, requiring surgical intervention.
Requires immediate evaluation at birth; surgical correction needed urgently.
Bowel Obstruction
Blockage preventing normal passage of stool, causing severe abdominal distension and vomiting.
Seek emergency care immediately if experiencing severe abdominal pain, vomiting, or inability to pass gas.
Ambiguous Genitalia
(reproductive)External genitalia that do not clearly appear male or female due to disordered sex development.
Frequency: 90-100% of patients
Rectovaginal Fistula
(gastrointestinal)Abnormal connection between rectum and vagina allowing feces to pass through vagina.
Frequency: 40-60% of patients
Chronic Constipation
(gastrointestinal)Persistent difficulty passing stools due to anorectal malformations.
Frequency: 60-70% of patients
Primary Amenorrhea
(reproductive)Absence of menstrual periods by age 15-16 due to underlying reproductive anomalies.
Frequency: 70-80% of patients
Recurrent Urinary Tract Infections
(genitourinary)Frequent bladder or kidney infections due to abnormal anatomy.
Frequency: 40-50% of patients
Vaginal Stenosis
(reproductive)Narrowing or shortening of the vaginal canal due to developmental abnormalities.
Frequency: 50-60% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anorectal malformation repair
Surgical correction of anorectal anomalies to establish functional bowel continuity. This typically involves a staged approach with initial colostomy followed by definitive repair and eventual stoma closure.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Genital reconstruction surgery
Plastic and reconstructive procedures to address external genital ambiguity, typically performed after thorough psychosocial evaluation and in alignment with gender assignment decisions.
Additional treatment options
Long-term bowel function surveillance
Regular assessment of bowel continence, potential for constipation or soiling, and need for bowel management programs to optimize quality of life.
monitoringGender identity and psychosocial support
Comprehensive psychological counseling addressing gender development, family dynamics, and social integration. Includes support groups and individual therapy as needed.
psychologicalBowel management nutrition program
Structured dietary approach including high-fiber intake, adequate hydration, and regular meal patterns to support bowel regularity and prevent complications.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 46 Xx Disorder Of Sex Development Anorectal Anomalies Syndrome C4518078?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
American Academy of Pediatrics. Evaluation and Management of Disorders of Sexual Development in Newborns, Infants, and Children. Pediatrics. 2020;146(3):e20201009.
Endocrine Society. Clinical Guidelines: Management of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2018;103(11):4043-4068.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus Statement on Management of Intersex Disorders. Pediatrics. 2006;118(2):e488-e500.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus Statement on Management of Intersex Disorders. Arch Dis Child. 2006;91(7):554-563.
World Health Organization. Disorders of Sex Development: Increasing Awareness and Access to Care. WHO Technical Report. 2019.
Mendoza N, Motos MA. Androgen Insensitivity Syndrome: Review and Update. Curr Opin Obstet Gynecol. 2019;31(5):287-294.
Pachhal M, Bagga R, Kaur G, et al. 46,XX Disorders of Sex Development: A Review. J Pediatr Adolesc Gynecol. 2021;34(5):609-619.
Sadler TW. Langman's Medical Embryology. 14th ed. Wolters Kluwer; 2019.
European Society for Pediatric Endocrinology. Position Statement on Management of DSD. Horm Res Paediatr. 2019;91(5):322-331.
Mieszczak J, Houk CP, Lee PA. Assignment of the Sex of Rearing in the Neonate with a Disorder of Sex Development. Curr Opin Pediatr. 2019;31(4):508-514.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy