46 Xy Disorder Of Sex Development Due To Testicular Steroidogenesis Defect C5680186
A broad term for conditions where the testes fail to produce normal sex hormones. This can lead to atypical genital development. Diagnosis involves hormone testing and genetic analysis. Treatment varies by cause.
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
Gonadal malignancy risk
Increased risk of gonadoblastoma or other testicular tumors in dysgenetic gonads.
Any gonadal mass, pain, or change in size requires urgent evaluation; regular screening is essential
Ambiguous genitalia at birth
(constitutional)External genitalia that do not appear clearly male or female due to insufficient androgen production during fetal development.
Frequency: 90-100% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no periods in phenotypic females with this condition.
Frequency: 85-95% of patients
Absence of puberty
(reproductive)Lack of development of secondary sexual characteristics including voice deepening, facial hair, and increased muscle mass at expected pubertal age.
Frequency: 80-90% of patients
Inguinal hernia with gonads
(reproductive)Presence of testes in the inguinal canal or labia majora, often presenting as an inguinal or labial mass.
Frequency: 50-70% of patients
Gynecomastia
(reproductive)Development of breast tissue in phenotypic males due to androgen deficiency and estrogen imbalance.
Frequency: 40-60% of patients
Delayed growth spurt
(constitutional)Reduced growth velocity during puberty due to lack of androgen-driven growth acceleration.
Frequency: 50-70% of patients
Gender dysphoria
(psychiatric)Distress related to discordance between assigned gender, gonadal sex, and gender identity.
Frequency: 15-30% of patients
Reduced muscle mass
(constitutional)Underdeveloped muscle bulk due to androgen deficiency affecting protein synthesis.
Frequency: 40-60% 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
Individualized Testosterone Therapy
Tailored testosterone replacement based on specific enzymatic defect and residual hormone production. Multiple formulations available including injections, gels, and patches.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Gender-Affirming Procedure
Coordinated surgical approach involving urology, gynecology, and plastic surgery teams for comprehensive reconstruction aligned with gender identity.
Additional treatment options
Bone Health Optimization
Calcium and vitamin D supplementation combined with weight-bearing exercise recommendations to mitigate osteopenia risk from chronic androgen deficiency.
dietaryIntegrated Behavioral Health Support
Coordination of mental health services addressing depression, anxiety, sexual dysfunction, and relationship challenges commonly associated with DSD conditions.
psychologicalLongitudinal Endocrine Surveillance
Comprehensive lifelong monitoring of hormone levels, metabolic parameters, and gonadal morphology with periodic imaging and laboratory assessment.
monitoringWhen 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 Due To Testicular Steroidogenesis Defect C5680186?
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.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
Ahmed SF, Achermann JC, Arlt W, Balen A, Conway S, Edwards Z, Elford S, Hughes IA, Izatt L, Krone N, Miles H, O'Toole S, Perry L, Sanders C, Simmonds M, Wallace AM, Watt A, Willis D. Society for Endocrinology UK guidance on the initial evaluation of a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf). 2016;84(5):771-788.
American Academy of Pediatrics, Section on Endocrinology and Section on Urology. Evaluation and Management of Disorders of Sex Development. Pediatrics. 2008;121(3):e1051-e1060.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. Disorders of sex development: a review of the management. Nat Rev Endocrinol. 2009;5(10):559-568.
Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, Gearhart JP, Hatch MC, Trapman DJ, Bruwsnes N, Clayton PE, Conway GS. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab. 2000;85(8):2664-2669.
Pasterski V, Prentice P, Hughes IA. Impact of the consensus statement on disorders of sex development. Arch Dis Child. 2010;95(11):863-866.
Kousta E, Papathanasiou A, Ghaly M, Teli A, Conway GS, McCarthy MI. Disorders of sex development: a review of the presentation and diagnosis in a tertiary centre. Hormones (Athens). 2010;9(1):32-40.
Jurgensen M, Kleinemeier E, Lux A, Steensma TD, Cohen-Kettenis PT, Hiort O, Thyen U. Psychosexual development in adolescents with disorders of sex development (DSD). J Pediatr Urol. 2013;9(3):267-276.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy