3 Oxo 5 Alpha Steroid Delta 4 Dehydrogenase Deficiency C0268297
A rare condition affecting how certain hormones are processed in the body, which can influence sexual development. Treatment may involve hormone therapy and specialist care.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- 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 inadequate aldosterone production.
Seek emergency care immediately if experiencing severe vomiting, dehydration, fainting, or shock symptoms.
Ambiguous genitalia
(genitourinary)Partial or complete fusion of the labial folds and clitoromegaly in genetic females, appearing as atypical genital development at birth.
Frequency: 80-90% of patients
Precocious puberty
(endocrine)Early onset of pubertal changes including accelerated growth, development of secondary sexual characteristics, and early bone maturation.
Frequency: 40-60% of patients, primarily males
Hirsutism
(dermatologic)Excessive growth of coarse, dark hair in a male pattern distribution on the face, chest, and back in females.
Frequency: 50-70% of female patients
Hypotension
(cardiovascular)Low blood pressure resulting from aldosterone deficiency, which may cause dizziness, lightheadedness, and fatigue.
Frequency: 30-50% of patients
Fatigue
(constitutional)Persistent tiredness and lack of energy due to adrenal insufficiency and hormonal imbalances affecting metabolism.
Frequency: 40-60% of patients
Salt craving
(endocrine)Intense desire for salty foods due to mineralocorticoid deficiency and sodium loss through the kidneys.
Frequency: 15-25% of patients
Failure to thrive
(gastrointestinal)Poor weight gain and growth velocity in infants and children due to chronic adrenal insufficiency and metabolic disturbances.
Frequency: 10-20% of pediatric patients
Primary amenorrhea
(reproductive)Absence of menstrual periods by age 15 or three years after breast development in females with androgen excess.
Frequency: 10-15% of female patients
Clitoromegaly
(genitourinary)Enlargement of the clitoris due to excessive androgen exposure during fetal development.
Frequency: 70-85% of female 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
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Gender Assignment and Identity Counseling
Comprehensive psychological support for families navigating complex gender assignment decisions. Includes long-term counseling for individuals as they develop their gender identity. Expert multidisciplinary teams provide guidance tailored to individual circumstances.
Hormone Replacement Therapy
Testosterone or estrogen supplementation as appropriate based on assigned gender and individual needs. Hormone therapy supports secondary sexual characteristic development consistent with gender identity.
Additional treatment options
Genitourinary Reconstruction Surgery
Surgical intervention for genital reconstruction when desired by the individual, typically performed after thorough psychological evaluation. Procedures aim to improve functional and cosmetic outcomes.
surgicalEndocrine and Genetic Monitoring
Long-term endocrine follow-up to monitor hormone levels, growth patterns, and bone health. Genetic counseling provides information about inheritance patterns and family planning.
monitoringFertility Counseling and Reproductive Options
Reproductive medicine consultation to discuss fertility preservation options and natural conception possibilities when applicable. Advanced reproductive technologies may offer options for biological parenthood.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 3 Oxo 5 Alpha Steroid Delta 4 Dehydrogenase Deficiency C0268297?
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.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf). 2009;70(2):173-187.
Endocrine Society. Clinical practice guidelines for the evaluation of new born with atypical genitalia. J Clin Endocrinol Metab. 2017;102(8):2758-2779.
Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, editors. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2020:867-936.
Cohen-Kettenis PT. Psychosocial and psychosexual aspects of disorders of sex development. J Urol. 2010;183(5):1906-1913.
Fabbri E,山海 C, Bertelloni S, Balsamo A. 5-alpha-reductase type 2 deficiency: a review of the genetic, clinical, and endocrine aspects. Endocr Rev. 2021;42(2):137-158.
Hughes IA. Disorders of sex development. In: Gardner DG, Shoback D, editors. Greenspan's Basic and Clinical Endocrinology. 10th ed. McGraw-Hill; 2018:Chapter 16.
Wisniewski AB, Migeon CJ, Gearhart JP, et al. Long-term perspective on psychosexual outcome in males with 5-alpha-reductase deficiency. J Clin Endocrinol Metab. 2001;86(7):3070-3078.
American Academy of Pediatrics. Care of the adolescent with intersex conditions. Pediatrics. 2006;118(2):445-456.
Sultan C, Paris F,Jeandel C, Lumbroso S, Balaguer P. 46,XY disorder of sex development: update on the genetic basis and management. Ann Endocrinol (Paris). 2013;74(2):68-78.
Medication Comparisons
Compare medications used to treat 3 Oxo 5 Alpha Steroid Delta 4 Dehydrogenase Deficiency C0268297. 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 27, 2026. · Read our editorial policy