Living with Autosomal dominant isolated somatotropin deficiency
A rare inherited condition with low growth hormone and shorter height than expected.
Understanding Autosomal dominant isolated somatotropin deficiency
Growth hormone levels are low but still detectable. People are likely shorter than others their age or family, though how short varies. Some have a smaller front part of the pituitary gland on brain scans. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Low growth hormone response on testing
- Low IGF-1 levels
- Small front part of the pituitary gland
- Curved spine (scoliosis)
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 GH1 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
GARD says changes in the GH1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; congenital ighd type ii; congenital isolated gh deficiency type ii; congenital isolated growth hormone deficiency type ii; growth hormone deficiency, isolated, type ii
Patient organizations
- Raymond A. Wood FoundationAutosomal dominant isolated somatotropin deficiency · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant isolated somatotropin deficiency.
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