Living with Congenital lipoid adrenal hyperplasia due to STAR deficency
A severe form of congenital adrenal hyperplasia with very low adrenal hormones and differences in male genital development.
Understanding Congenital lipoid adrenal hyperplasia due to STAR deficency
It causes severe adrenal insufficiency, which means the adrenal glands make too little of hormones such as cortisol. Boys with XY chromosomes can have female-looking external genitalia (sex reversal). It can start from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low cortisol (adrenal insufficiency)
- Female-looking genitalia in a person with XY chromosomes
- Enlarged adrenal glands
- Patchy darker skin
- Vomiting and fever
- Higher ACTH levels
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 STAR 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 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, 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 STAR gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: 20,22-desmolase deficiency; adrenal hyperplasia i; cholesterol desmolase deficiency; cholesterol desmolase-deficient congenital adrenal hyperplasia; cholesterol monooxygenase (side-chain cleaving) deficiency; clah
Patient organizations
- CARES FoundationCongenital lipoid adrenal hyperplasia due to STAR deficency · United States
- Resolve: The National Infertility AssociationInfertility · United States
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