46 Xx Disorder Of Sex Development Skeletal Anomalies Syndrome C1849696
A rare genetic syndrome in XX individuals causing differences in sexual development alongside bone and skeletal abnormalities. It is present at birth and severe. Coordinated care with multiple specialists is essential.
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
Gonadal tumor risk
Increased risk of gonadoblastoma or other tumors in dysgenic gonadal tissue.
URGENT: Regular imaging and tumor marker monitoring required; surgical removal of dysgenic gonads may be recommended.
Ambiguous genitalia
(genitourinary)External genitalia that does not have typical male or female appearance, may include clitoromegaly, hypospadias, or partially developed scrotum.
Frequency: 70-90% of patients
Primary amenorrhea
(reproductive)Absence of menstruation by age 15 or within 3 years of breast development, indicating lack of ovarian function.
Frequency: 80-95% of patients
Short stature
(musculoskeletal)Abnormally low height due to skeletal growth abnormalities, often noticeable in childhood.
Frequency: 60-80% of patients
Delayed puberty
(endocrinologic)Lack of development of secondary sexual characteristics by age 13-14, including breast development in females or voice changes in males.
Frequency: 60-75% of patients
Gonadal dysgenesis
(reproductive)Underdeveloped or streak gonads that do not function properly, leading to hormonal deficiencies.
Frequency: 70-85% of patients
Skeletal malformations
(musculoskeletal)Congenital bone abnormalities including abnormal curvature of long bones, joint contractures, or spinal deformities.
Frequency: 50-70% of patients
Infertility
(reproductive)Inability to conceive naturally due to gonadal dysfunction and abnormal sex chromosome patterns.
Frequency: 90-95% of patients
Hormone deficiency
(endocrinologic)Deficiency of sex hormones (estrogen or testosterone) leading to metabolic and developmental issues.
Frequency: 30-50% of patients
Developmental delay
(constitutional)Cognitive or motor developmental delays in some cases due to associated genetic syndromes.
Frequency: 5-15% 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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Musculoskeletal rehabilitation program
Individualized physical therapy focusing on joint mobility, muscle strengthening, and functional movement patterns to maximize physical capabilities and independence.
Orthopedic surveillance and imaging
Regular radiographic assessment of skeletal anomalies to monitor progression, plan surgical interventions, and evaluate response to growth.
Additional treatment options
Orthopedic corrective procedures
Surgical interventions such as osteotomies, spinal fusion, or limb realignment performed when conservative measures are insufficient to address functional impairment or pain.
surgicalBone health optimization nutrition
Dietary supplementation and nutrition planning focused on calcium, vitamin D, and protein intake to support bone density and skeletal health.
dietaryPain management and adaptive therapies
Integration of complementary approaches including acupuncture, massage, and hydrotherapy to manage chronic musculoskeletal pain and improve mobility.
complementaryWhen 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 Skeletal Anomalies Syndrome C1849696?
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, Section on Endocrinology and Section on Urology. Guidelines for the Management of Disorders of Sex Development. Pediatrics. 2006;118(2):e488-e500.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-e500.
Mendoza N, Morcillo S, Santos M. Disorders of Sex Development: Classification, Genetics, and Management. Endocrinol Nutr. 2013;60(1):3-14.
Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. J Pediatr Urol. 2007;3(5):331-335.
Grumbach MM, Conte FA. Disorders of Sexual Differentiation. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR, eds. Williams Textbook of Endocrinology. 10th ed. Philadelphia: Saunders; 2003:842-1002.
Berglund A, Johannsen TH, Stochholm K, et al. Morbidity, Mortality, and Socioeconomics in 46,XX and 46,XY DSD: A Danish National Cohort Study. J Clin Endocrinol Metab. 2021;106(10):e3944-e3957.
Kousta E, Papathanasiou A, Georgopoulos NA. Disorders of Sex Development: Current Status and Future Directions. Hormones (Athens). 2010;9(4):267-276.
Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088.
Diamond DA, Burns JP, Mitchell C, et al. Sex assignment for newborns with ambiguous genitalia: A role for shared decision-making. J Urol. 2021;206(5):1134-1139.
Orphanet. Rare Disease Database: 46,XX Disorder of Sex Development. Paris: INSERM; 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy