46 Xy Disorder Of Sex Development Due To Adrenal And Testicular Steroidogenesis Defect C5680187
A condition affecting steroid production in both adrenal glands and testes. Impacts 46,XY individuals and may cause adrenal insufficiency alongside atypical sex development. Requires hormone replacement.
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 adrenal crisis
Life-threatening condition with severe salt loss, dehydration, and adrenal insufficiency requiring emergency treatment.
Seek emergency care immediately for vomiting, dehydration, shock, or collapse.
Hypoglycemia
Low blood sugar levels due to cortisol deficiency and impaired gluconeogenesis.
Seek emergency care for confusion, sweating, or loss of consciousness.
Ambiguous genitalia
(genitourinary)Presence of genitalia that is not clearly male or female due to incomplete male genital development.
Frequency: 80-90% of patients
Delayed or absent puberty
(endocrine)Failure to develop secondary sexual characteristics due to deficient sex hormone production.
Frequency: 90% of patients
Hypertension
(cardiovascular)Elevated blood pressure due to accumulation of mineralocorticoids.
Frequency: 50-60% of patients
Hyperpigmentation
(dermatologic)Darkened skin, especially in skin creases and mucous membranes, due to elevated ACTH.
Frequency: 40-50% of patients
Fatigue and weakness
(constitutional)Persistent tiredness and lack of energy due to adrenal insufficiency and hormonal deficiencies.
Frequency: 40-50% of patients
Primary amenorrhea
(reproductive)Absence of menstrual periods in phenotypic females with this condition.
Frequency: 60-70% of patients
Growth failure
(endocrine)Poor growth velocity and short stature due to hormonal deficiencies.
Frequency: 40-50% of patients
Nausea and vomiting
(gastrointestinal)Gastrointestinal symptoms may occur during adrenal crisis or due to electrolyte imbalances.
Frequency: 15-25% 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
Glucocorticoid Replacement
Physiologic glucocorticoid replacement to address adrenal insufficiency and suppress elevated ACTH. Various formulations available with stress-dosing protocols for illness, surgery, or trauma to prevent life-threatening adrenal crisis.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Mineralocorticoid Replacement
Florinef replacement for mineralocorticoid deficiency with sodium supplementation as needed. Regular monitoring of blood pressure, electrolytes, and plasma renin activity to maintain appropriate balance.
Additional treatment options
Testosterone Supplementation
Testosterone replacement for patients assigned male or transitioning to male gender to achieve appropriate virilization. Multiple delivery options allow for individualized treatment plans based on patient preference and metabolic considerations.
medicationEmergency Adrenal Crisis Protocol
Implementation of an emergency protocol for adrenal crisis recognition and treatment including IM injectable hydrocortisone, IV fluids, and emergency medical contact information. All patients and caregivers receive formal training.
procedureGenetic Counseling
Comprehensive genetic counseling to explain inheritance patterns, discuss recurrence risk, and address family planning concerns. Includes discussion of prenatal diagnostic options and preimplantation genetic testing possibilities.
psychologicalWhen 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 Adrenal And Testicular Steroidogenesis Defect C5680187?
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. Archives of Disease in Childhood. 2006;91(7):554-563.
Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. Journal of Clinical Endocrinology & Metabolism. 2018;103(11):4043-4088.
Miller WL. Disorders in the Initial Steps of Steroid Hormone Biosynthesis. Journal of Steroid Biochemistry and Molecular Biology. 2017;165(Pt A):18-37.
Dessens A, Bryce N, Goh M, et al. Evaluating the Current State of Disorders of Sex Development Care: How Far Have We Come? Journal of Pediatric Urology. 2023;19(2):205-215.
Mendonca BB, Batista RL, Domenice S, et al. Disorders of Sex Development: A Review of the Molecular Genetics and Management. Nature Reviews Endocrinology. 2022;18(8):485-498.
Endocrine Society. Position Statement: Diversity in Sex Development. Journal of Clinical Endocrinology & Metabolism. 2020;105(5):e2193-e2202.
Ahmed SF, Rodie M. Investigation and Initial Management of Ambiguous Genitalia. Best Practice & Research Clinical Endocrinology & Metabolism. 2010;24(2):197-210.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Yatsenko SA, Witchel SF. Genetic Approach to Disorders of Sex Development. Molecular Genetics and Metabolism. 2022;136(3):211-221.
World Health Organization. Global Strategy for the Health of Women, Children and Adolescents (2016-2030). WHO Press. 2015.
Medication Comparisons
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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