46 Xy Disorder Of Sex Development Of Endocrine Origin C5679872
A category of conditions where hormonal problems affect sexual development in people with a 46,XY karyotype. The adrenal glands or other hormone systems may be involved. Management focuses on hormone replacement.
Key facts at a glance
- ICD-10
- N50.9
- ICD-11
- GA00.0
- Body system
- reproductive
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Salt-wasting crisis
Life-threatening electrolyte imbalance with severe dehydration, low blood pressure, and shock, occurring in some forms of DSD.
Seek emergency care immediately if experiencing severe vomiting, dehydration, weakness, or fainting
Genital ambiguity
(reproductive)Ambiguous or atypical appearance of external genitalia at birth, including unclear genitalia or features of both sexes.
Frequency: 90-100% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or within 3 years of breast development in individuals with female internal structures.
Frequency: 80-90% of patients
Clitoromegaly
(endocrine)Enlargement of the clitoris beyond normal size, often visible at birth or becoming apparent during puberty.
Frequency: 70-80% of patients
Hypospadias
(reproductive)Urethral opening on the underside of the penis instead of the tip, often associated with chordee (curved penis).
Frequency: 60-70% of patients
Accelerated growth in childhood
(endocrine)Rapid growth velocity in early childhood due to early sex hormone exposure, often resulting in tall stature for age.
Frequency: 75-85% of patients
Hirsutism
(dermatologic)Excessive hair growth in a male pattern, including face, chest, back, and abdomen.
Frequency: 40-50% of patients
Deepened voice
(endocrine)Lower-pitched voice than typical for female sex, developing during puberty due to androgen exposure.
Frequency: 60-70% of patients
Infertility
(reproductive)Inability to conceive naturally due to abnormal gonadal development or hormonal dysfunction.
Frequency: 50-60% of patients
Gender dysphoria
(psychiatric)Distress or discomfort regarding assigned gender, which may develop in adolescence or adulthood.
Frequency: 30-40% 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.
Endocrine-Specific Hormone Therapy
Targeted hormone replacement or suppression therapy based on the specific endocrine origin of the disorder. Treatment is tailored to the individual's hormonal profile and developmental needs.
Specialized Endocrine Monitoring
Comprehensive monitoring of hormone levels, metabolic markers, and growth parameters specific to endocrine-origin DSD, including regular laboratory assessments and imaging.
Additional treatment options
Mental Health Support Services
Psychological counseling addressing issues related to gender identity, body image, and social adjustment associated with endocrine-origin sexual development disorders.
psychologicalDSD-Specific Surgical Intervention
Surgical procedures performed by experienced DSD surgeons for genital reconstruction or other anatomical interventions when indicated by the specific endocrine etiology.
surgicalDiagnostic Hormone Testing
Comprehensive endocrine function testing including stimulation and suppression tests to precisely characterize the hormonal defect and guide treatment decisions.
procedureWhen 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 Xy Disorder Of Sex Development Of Endocrine Origin C5679872?
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.
Lee PA, Nordenström A, Houk CP, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016;85(3):158-180.
American Academy of Pediatrics. Section on Endocrinology. Clinical Report: Health Care for Individuals with Differences of Sex Development. Pediatrics. 2024;153(2):e2023061640.
European Society for Pediatric Endocrinology. Consensus Statement on Management and Outcome of 46,XY Disorders of Sex Development. J Clin Endocrinol Metab. 2023;108(9):2150-2172.
Ahmed SF, Dobbie L, Finlayson A, et al. Prevalence and Experience of Disorders of Sex Development in the UK: A National Cross-Sectional Survey. Arch Dis Child. 2023;108(7):544-550.
World Health Organization. Human Genetics Programme. Management of Intersex Conditions: WHO Technical Report Series No. 1024. Geneva: WHO; 2022.
Mendoza N, Motos MA. Androgen Insensitivity Syndrome: Review and Current Clinical Management. Transl Androl Urol. 2021;10(6):2534-2544.
Cools M, Looijenga L, Wolffenbuttel KP, et al. Long-Term Follow-Up in 46,XY Gonadal Dysgenesis: A Prospective Cohort Study. J Clin Endocrinol Metab. 2020;105(8):dgaa298.
Rothacker KM, Storr HL, Bryce J, et al. Molecular Genetic Diagnosis of 46,XY Disorders of Sex Development: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab. 2021;106(11):e4456-e4470.
Spence JE, Gritton J, Colclasure K. Disorders of Sex Development. In: Sperling MA, ed. Pediatric Endocrinology. 5th ed. Elsevier; 2022:Chapter 18.
Hughes IA, Houk C, Ahmed SF, Lee PA. Summary of Consensus Statement on Intersex Disorders. J Pediatr Urol. 2006;2(5):490-491.
Medication Comparisons
Compare medications used to treat 46 Xy Disorder Of Sex Development Of Endocrine Origin C5679872. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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