Living with Congenital isolated adrenocorticotropic hormone deficiency
A condition from birth in which the pituitary gland makes little or no ACTH, which leaves the adrenal glands underactive.
Understanding Congenital isolated adrenocorticotropic hormone deficiency
ACTH tells the adrenal glands to make cortisol, so low ACTH leads to low cortisol. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low cortisol (adrenal insufficiency)
- Tiredness (fatigue)
- Low blood pressure
- Long-lasting jaundice in newborns
- Small adrenal glands
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 and hormone specialists.
- 3Consider genetic testing
Changes in TBX19 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
Raymond A. Wood Foundation and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Raymond A. Wood Foundation, 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 Raymond A. Wood 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 TBX19 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: acth deficiency; acth deficiency, isolated; adrenocorticotropic hormone (acth) deficiency; adrenocorticotropic hormone deficiency; congenital isolated acth deficiency; congenital isolated adrenocorticotropic hormone deficiency (disease)
Patient organizations
- Raymond A. Wood FoundationCongenital isolated adrenocorticotropic hormone deficiency · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital isolated adrenocorticotropic hormone deficiency.
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