17 Alpha Hydroxylase 7 20 Lyase Deficiency Cn380063
A rare genetic disorder affecting steroid hormone production. Causes ambiguous genitalia, lack of puberty, and high blood pressure. Requires lifelong hormone replacement therapy.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Adrenal Crisis
Life-threatening condition with severe hypotension, shock, vomiting, and altered mental status due to acute cortisol deficiency.
This is a medical emergency. Seek immediate emergency care if experiencing severe hypotension, confusion, vomiting, or loss of consciousness.
Severe Hypotension
Dangerously low blood pressure that can lead to shock, particularly during adrenal crisis episodes.
This requires immediate emergency medical attention if accompanied by dizziness, fainting, or cold, clammy skin.
Hypertension
(cardiovascular)Elevated blood pressure due to accumulation of mineralocorticoids (11-deoxycorticosterone) that cause sodium and water retention.
Frequency: 70-80% of patients
Primary Amenorrhea
(reproductive)Complete absence of menstruation in post-pubertal females due to lack of estrogen production from the ovaries.
Frequency: 90-100% of female patients
Lack of Secondary Sexual Characteristics
(reproductive)Underdevelopment or absence of breast development, pubic hair, and other pubertal changes due to sex steroid deficiency.
Frequency: 90-100% of patients
Fatigue and Weakness
(constitutional)Persistent tiredness and lack of energy due to cortisol deficiency and electrolyte imbalances.
Frequency: 60-70% of patients
Hypokalemia
(metabolic)Low potassium levels in the blood due to excess mineralocorticoid activity causing potassium wasting.
Frequency: 40-50% of patients
Delayed Puberty
(reproductive)Failure to enter puberty at the normal age due to insufficient sex hormone production from both adrenal glands and gonads.
Frequency: 90-100% of patients
Infertility
(reproductive)Inability to conceive due to lack of sex hormone production and impaired gonadal function in both males and females.
Frequency: 60-70% of post-pubertal 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
Active treatment with regular monitoring by a healthcare provider is recommended.
Glucocorticoid and Mineralocorticoid Replacement
Combined glucocorticoid and mineralocorticoid replacement therapy addressing both cortisol and aldosterone deficiency. Fludrocortisone may be added for mineralocorticoid activity.
Sex Steroid Hormone Replacement
Gender-appropriate sex hormone replacement to support pubertal development and maintain secondary sexual characteristics throughout life.
Additional treatment options
Electrolyte and Blood Pressure Monitoring
Regular monitoring of sodium, potassium, and blood pressure to ensure adequate mineralocorticoid replacement and prevent hypertension or hypotension.
monitoringSodium Supplementation
Dietary salt supplementation may be required to manage mineralocorticoid deficiency, particularly in children and during periods of increased need.
dietaryComprehensive DSD Counseling
Long-term psychological support including identity exploration, fertility counseling, and family systems therapy for affected individuals and their families.
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 17 Alpha Hydroxylase 7 20 Lyase Deficiency Cn380063?
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.
Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis. Endocrine Reviews. 2011;32(1):81-151.
Kater CE, Biglieri EG. Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinology and Metabolism Clinics of North America. 1994;23(2):341-357.
Matsuzaki S, Yanase T, Takayama Y, et al. Novel homozygous missense mutation of CYP17A1 gene in a female with 17 alpha-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism. 2020;105(10):dgaa487.
Auchus RJ. The genetics, biochemistry, and molecular biology of steroidogenesis. Steroids. 2013;78(6):563-567.
Klein N, Kulle A, Holterhus PM, et al. Steroid 17-hydroxylase deficiency: genotype-phenotype correlation and systematic review. Journal of Clinical Endocrinology and Metabolism. 2022;107(8):e3199-e3212.
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 and Metabolism. 2018;103(11):4043-4088.
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Yang J, Sun L, Zhang J, et al. Clinical and molecular characterization of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients. Frontiers in Endocrinology. 2021;12:778233.
Gomes LG, Bachega TASS, Mendonca BB. Classic congenital adrenal hyperplasia and its management: from 17-hydroxyprogesterone to gene. Current Opinion in Endocrinology, Diabetes & Obesity. 2020;27(3):142-149.
Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. New England Journal of Medicine. 2020;383(13):1248-1261.
Medication Comparisons
Compare medications used to treat 17 Alpha Hydroxylase 7 20 Lyase Deficiency Cn380063. 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