46 Xy Differences Of Sex Development C2751824
A condition where genetic, anatomical, or hormonal factors lead to variations in typical male sex development. Care involves a multidisciplinary team addressing medical, emotional, and social needs.
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
Salt-wasting crisis
Life-threatening electrolyte imbalance with severe dehydration and low blood pressure, seen in some forms of 46-XY DSD.
EMERGENCY: Seek immediate medical care if experiencing severe vomiting, weakness, or fainting.
Ambiguous genitalia
(reproductive)External genitalia that do not clearly appear male or female at birth due to atypical development.
Frequency: 70-80% of patients
Micropenis
(reproductive)Abnormally small penis size at birth, typically less than 2.5 cm in length.
Frequency: 50-60% of patients
Cryptorchidism
(reproductive)One or both testicles fail to descend into the scrotum before birth.
Frequency: 30-50% of patients
Hypospadias
(reproductive)Urethral opening develops on the underside of the penis instead of the tip.
Frequency: 20-30% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no menstruation in individuals with female phenotype.
Frequency: Up to 90% of patients with female phenotype
Gonadal dysgenesis
(reproductive)Underdeveloped or abnormal gonadal tissue that may not produce adequate hormones.
Frequency: 40-50% of patients
Delayed or absent puberty
(constitutional)Lack of development of secondary sexual characteristics by expected age.
Frequency: 60-70% of patients
Infertility
(reproductive)Inability to conceive naturally due to gonadal dysfunction or anatomical abnormalities.
Frequency: 60-80% of patients
Short stature
(constitutional)Height below expected genetic potential due to hormonal factors affecting growth.
Frequency: 15-20% 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.
Multidisciplinary DSD team care
Coordinated care involving endocrinology, urology, gynecology, psychology, and genetics to provide comprehensive, patient-centered care.
Psychosocial support and counseling
Individual and family counseling to address emotional adjustment, identity development, and social support needs.
Additional treatment options
Hormone replacement therapy
Testosterone or estrogen therapy as appropriate to support secondary sexual development and bone health based on assigned gender.
medicationGonadal surgery if desired
Gonadectomy or genitoplasty procedures performed only with informed patient consent, addressing malignancy risk and personal preferences.
surgicalPeer support and community resources
Connection with support groups and patient advocacy organizations for shared experiences and practical guidance.
lifestyleWhen 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 Differences Of Sex Development C2751824?
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, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-e500.
Endocrine Society. Management of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2018;103(11):4043-4068.
American Academy of Pediatrics. Policy statement: Evaluation and management of disorders of sex development. Pediatrics. 2008;121(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.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. Disorders of sex development: a review of the pathophysiology. Arq Bras Endocrinol Metab. 2009;53(6):691-700.
Lee PA, Nordenström A, Houk CP, Ahmed SF, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85(3):158-180.
Cohen-Kettenis PT, Pfäfflin F. The DSM diagnostic criteria for gender identity disorder in adolescents and adults. Arch Sex Behav. 2010;39(2):499-513.
Bouchard C, Chrousos GP. Update on congenital adrenal hyperplasia: from pathophysiology to clinical practice. Nat Rev Endocrinol. 2015;11(10):623-634.
Medication Comparisons
Compare medications used to treat 46 Xy Differences Of Sex Development C2751824. 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 27, 2026. · Read our editorial policy