Living with Short stature due to growth hormone qualitative anomaly
A rare genetic condition in which growth hormone is present but does not work, causing slow growth and short height.
Understanding Short stature due to growth hormone qualitative anomaly
Children grow slowly and are short, even though growth hormone (GH) levels are normal or slightly high. Levels of a related growth signal, IGF-I, are low. Growth speeds up noticeably with growth hormone treatment. Only a few cases have been reported. Signs begin in the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Slow growth
- Short stature
- Low IGF-I levels in the blood
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
Little People of America 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: Little People of America, 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 Little People of America 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 various changes in the GH1 gene make a growth hormone that is built wrong and biologically inactive. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: biodefective growth hormone; kowarski syndrome; pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
Patient organizations
- Little People of AmericaShort stature due to growth hormone qualitative anomaly · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Short stature due to growth hormone qualitative anomaly.
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