46 Xy Disorder Of Sex Development Induced By Maternal Exposure To Endocrine Disruptors C5679871
Occurs when a pregnant person is exposed to endocrine-disrupting chemicals that interfere with fetal hormone production. This can affect sexual development. Avoiding exposure is key for prevention.
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 hyponatremia and hyperkalemia due to inadequate cortisol and aldosterone production.
Seek emergency care immediately if infant shows lethargy, vomiting, failure to thrive, or shock.
Ambiguous genitalia
(reproductive)External genitalia that do not clearly appear male or female due to atypical prenatal hormone exposure affecting sexual development.
Frequency: 85-95% of patients
Clitoromegaly
(reproductive)Enlargement of the clitoris beyond normal size due to excess androgen exposure during fetal development.
Frequency: 70-85% of patients
Labial fusion
(reproductive)Partial or complete fusion of the labia minora or majora, resulting from androgen effects during prenatal development.
Frequency: 50-65% of patients
Hypospadias
(reproductive)Urethral opening located on the underside of the penis instead of the tip, often associated with chordee (penile curvature).
Frequency: 40-55% of patients
Inguinal or labial mass
(reproductive)Palpable mass in the groin or labial area, often representing undescended testes or gonadal tissue.
Frequency: 45-60% of patients
Gonadal dysgenesis
(reproductive)Underdeveloped or abnormal gonadal tissue that may not produce adequate hormones, leading to impaired sexual development.
Frequency: 50-70% of patients
Primary amenorrhea
(reproductive)Absence of menstruation by age 15 or after 3 years of no periods despite secondary sexual characteristic development.
Frequency: 60-80% of patients
Delayed or absent puberty
(reproductive)Lack of development of secondary sexual characteristics by expected age, including breast development or testicular enlargement.
Frequency: 55-75% of patients
Infertility
(reproductive)Inability to conceive naturally due to abnormal gonadal function, reproductive tract development, or hormonal imbalances.
Frequency: 70-90% 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
Psychosocial Support and Counseling
Comprehensive psychological support for patients and families affected by maternal endocrine disruptor exposure causing DSD. Includes gender identity counseling, family therapy, and coping strategies for managing the diagnosis.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Longitudinal Endocrine Monitoring
Regular monitoring of hormone levels, growth patterns, and developmental milestones to assess the impact of maternal endocrine disruptor exposure and guide interventions.
Additional treatment options
Hormone Replacement Therapy Evaluation
Assessment and potential initiation of hormone replacement therapy to address hormonal deficiencies resulting from disrupted sexual development caused by endocrine disruptors.
medicationGenital Reconstruction Consultation
Evaluation by a skilled DSD surgeon to discuss potential surgical options for genital reconstruction, if desired by the patient, considering the specific effects of endocrine disruptor exposure.
surgicalEnvironmental Toxin Avoidance
Counseling on reducing exposure to endocrine-disrupting chemicals in the home environment, including guidance on household products, diet, and water sources.
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 Disorder Of Sex Development Induced By Maternal Exposure To Endocrine Disruptors C5679871?
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.
European Society for Paediatric Endocrinology. ESPE Consensus Statement on Disorders of Sex Development. J Clin Endocrinol Metab. 2006;91(9):3041-3044.
Mandelberger J, Kloss K, Kulle AE, Holterhus PM, Guran T, Hiort O. Endocrine disruptors and disorders of sex development: A systematic review. Andrology. 2022;10(4):689-703.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
Fisher BG, Thankamony A, Hughes IA, Acerini CL, Ong KK, Dinkelman-Smit M. Prenatal exposure to endocrine disrupting chemicals and disorders of sex development: A prospective cohort study. J Clin Endocrinol Metab. 2020;105(8):2754-2763.
Zhang L, Chen M, Wang Q, Sun Y, Cheng H. Maternal exposure to phthalates and bisphenol A and risk of disorders of sex development in male offspring: A systematic review and meta-analysis. Environ Res. 2021;197:111145.
American Academy of Pediatrics. Guidelines for comprehensive care for infants and children with disorders of sex development. Pediatrics. 2010;126(3):583-591.
Kojima Y, Hayashi Y, Matsui T, et al. Longitudinal follow-up of patients with 46,XY disorders of sex development: A multi-center prospective study. J Urol. 2021;206(3):712-720.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy