Living with Deficiency of steroid 17-alpha-monooxygenase
A form of congenital adrenal hyperplasia that affects the adrenal glands and sex glands, changing hormones and sexual development.
Understanding Deficiency of steroid 17-alpha-monooxygenase
It is one of the congenital adrenal hyperplasias, which impair hormone production and disrupt sexual development. The gonads direct sexual development before birth and during puberty. Hormone imbalances cause the symptoms. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No puberty development
- No secondary sex characteristics
- Undescended testes
- Congenital adrenal hyperplasia
- Excess ACTH hormone
- Low renin level in blood tests
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CYP17A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CARES Foundation, National Adrenal Diseases Foundation and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: CARES Foundation, National Adrenal Diseases Foundation, Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CARES Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CYP17A1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 17 alpha-hydroxylase deficiency; 17-alpha-hydroxylase deficiency; 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia; 17-alpha-hydroxylase/17,20-lyase deficiency; adrenal hyperplasia v; adrenogenital disorder due to 17-alpha-hydroxylase deficiency
Patient organizations
- CARES FoundationDeficiency of steroid 17-alpha-monooxygenase · United States
- National Adrenal Diseases FoundationDeficiency of steroid 17-alpha-monooxygenase · United States
- Resolve: The National Infertility AssociationInfertility · United States
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