Living with Congenital adrenal hypoplasia, X-linked
An X-linked condition from birth where underdeveloped adrenal glands make too little hormone, and puberty may be delayed.
Understanding Congenital adrenal hypoplasia, X-linked
The adrenal glands make hormones that help the body respond to stress. Adrenal insufficiency usually begins in infancy or childhood and can cause vomiting, feeding difficulty, dehydration and very low blood sugar. Some people also have low male sex hormones, causing undescended testicles, delayed puberty and infertility. Onset and severity vary, even in one family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low cortisol (adrenal insufficiency)
- Slow weight gain in infancy
- Fatigue, nausea and diarrhea
- Patchy darker skin
- Delayed puberty
- Low testosterone and small testicles
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 NR0B1 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
National Adrenal Diseases Foundation, Resolve: The National Infertility Association and Pituitary Network 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: National Adrenal Diseases Foundation, Resolve: The National Infertility Association, Pituitary Network 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 National Adrenal Diseases 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 NR0B1 gene are listed. It is inherited in an X-linked pattern.
Also known as: adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; adrenal hypoplasia, congenital, x-linked recessive; ahc; isolated x-linked adrenal hypoplasia congenita; x-linked adrenal hypoplasia congenita; x-linked ahc
Patient organizations
- National Adrenal Diseases FoundationCongenital adrenal hypoplasia, X-linked · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital adrenal hypoplasia, X-linked.
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