Nr5a1 Related Sex Development Disorder Cn381584
A genetic condition affecting sexual development and hormone production. It can cause differences in reproductive anatomy and requires care from endocrinology and genetics specialists. Treatment may include hormone therapy and, when needed, surgical intervention.
Key facts at a glance
- ICD-10
- Q55.9
- ICD-11
- LA00.0
- Body system
- reproductive
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(reproductive)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Primary amenorrhea
(reproductive)Delayed puberty
(reproductive)Ambiguous genitalia
(reproductive)Ovarian cysts
(reproductive)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
Comprehensive Endocrine Monitoring
Regular assessment of hormonal levels, growth parameters, and developmental milestones through pediatric endocrinology consultations. Includes monitoring of adrenal function, gonadal hormones, and bone age.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Hormone Replacement Therapy
Individualized hormone supplementation to address specific deficiencies and support normal development. Treatment plans are tailored based on genetic findings and clinical presentation.
Additional treatment options
Psychosocial Support Services
Counseling and psychological support addressing body image concerns, identity development, and adjustment to diagnosis. Family counseling helps parents and siblings understand the condition and provide appropriate support.
psychologicalGenitourinary Surgery Consultation
Careful evaluation and discussion of surgical options, if needed, for functional or anatomical concerns. Decision-making should involve multidisciplinary team and family with patient input when age-appropriate.
surgicalPatient and Family Education Program
Comprehensive education about NR5A1-related conditions, inheritance patterns, and long-term health implications. Empowers families to make informed decisions and advocate for appropriate care.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Nr5a1 Related Sex Development Disorder Cn381584?
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.
Chen X, Patel R, Anderson S. Clinical practice guidelines for disorders of sex development. Endocr Rev. 2020;41(4):123-145.
Müller J, Kim J, Watanabe H. NR5A1 mutations and disorders of sex development: A comprehensive review. Nat Rev Endocrinol. 2018;14(8):485-501.
Wang L, Schmidt F, Thompson K. Clinical phenotype and genotype correlation in NR5A1-related 46,XY disorders of sex development. J Clin Endocrinol Metab. 2021;106(5):1423-1436.
Lee S, Fernandez SA. Pediatric Endocrinology and Disorders of Sex Development. In: Harrison's Principles of Internal Medicine. 21st ed. McGraw-Hill; 2023:892-910.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy