46 Xx Disorder Of Sex Development C2936403
A variation in typical female sex development involving chromosomal, gonadal, or anatomical differences. Treatment and support are personalized based on individual medical 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 condition with severe dehydration, low blood pressure, vomiting, and shock due to cortisol and aldosterone deficiency.
Seek emergency care immediately if baby shows lethargy, vomiting, poor feeding, or weight loss.
Ambiguous genitalia at birth
(genitourinary)External genitalia that does not appear typically male or female, including partial fusion of labia and clitoromegaly.
Frequency: 90-95% of patients
Clitoromegaly
(genitourinary)Enlargement of the clitoris exceeding normal female anatomy, often appearing as a small phallus.
Frequency: 80-90% of patients
Labial fusion
(genitourinary)Partial or complete fusion of the labia minora, creating the appearance of a scrotal sac.
Frequency: 60-70% of patients
Excessive body hair growth
(dermatologic)Excessive hair growth in a male pattern distribution, including face, chest, and back.
Frequency: 60-80% of patients
Deepened voice
(respiratory)Progressive deepening of the voice due to androgen effects on vocal cords.
Frequency: 50-70% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or after 3 years of no menses following breast development.
Frequency: 70-80% of untreated patients
Accelerated growth velocity
(endocrine)Faster than expected growth in childhood leading to early closure of growth plates and short adult stature.
Frequency: 60-80% 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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Individualized Hormone Therapy
Tailored hormone replacement based on specific diagnosis, patient goals, and genetic makeup. May include estrogen, progesterone, or androgen therapy depending on individual needs.
Multidisciplinary Psychosocial Support
Integrated psychological support including individual therapy, family involvement, and peer support connections. Addresses identity development, disclosure decisions, and coping strategies.
Additional treatment options
Genital Reconstruction Surgery
When desired by the patient, surgical intervention to align physical characteristics with gender identity. Requires thorough informed consent and psychological preparation.
surgicalComprehensive Long-term Monitoring
Regular assessment of hormonal status, bone health, metabolic function, and psychological wellbeing through a coordinated DSD specialty team.
monitoringMultidisciplinary DSD Team Care
Coordinated care involving endocrinology, urology, gynecology, psychology, genetics, and social work to address all aspects of DSD comprehensively.
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 C2936403?
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. J Pediatr Urol. 2006;2(3):148-162.
American Academy of Pediatrics. Technical report: disorders of sex development. Pediatrics. 2008;121(4):e1161-e1172.
Mendoza N, Motos MA. Androgen insensitivity syndrome: a review. Endocrinol Nutr. 2013;60(8):457-466.
Ostrer H. Disorders of sex development (DSD): of sex and gender. Curr Opin Endocrinol Diabetes Obes. 2012;19(3):198-204.
Wisniewski AB, Batista RL, Costa EMF, et al. Management of 46,XX pure gonadal dysgenesis (swyer syndrome): a committee opinion. Fertil Steril. 2022;117(6):1189-1194.
Grinspon RP, Ropelato MG, Bedecarrás P, et al. Gonadal dysgenesis and DSD: clinical spectrum and genetic basis. Ann Endocrinol (Paris). 2021;82(3-4):163-175.
Kousta E, Papathanasiou A, Mastorakos G. Disorders of sex development: classification, genetics, and management. Endocr Dev. 2014;27:62-71.
Camats N, Flück CE, Audí L. disorders of sex development: genetic and clinical aspects. Front Endocrinol (Lausanne). 2020;11:604329.
Medication Comparisons
Compare medications used to treat 46 Xx Disorder Of Sex Development C2936403. 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