Living with Short stature due to partial GHR deficiency
A rare genetic hormone condition in which the body only partly responds to growth hormone, causing short height.
Understanding Short stature due to partial GHR deficiency
Because the receptor doesn't work fully, the body is partly insensitive to growth hormone. Children grow slowly and are short, often without another clear reason. They have low IGF-1 levels and delayed bone maturation. Puberty may be delayed. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth
- Short stature
- Low IGF-1 levels in the blood
- Delayed bone maturation
- Delayed puberty (less common)
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 GHR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Human Growth Foundation
- 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 lists changes in the GHR gene, which reduce how well the growth hormone receptor works. It is inherited in an autosomal dominant pattern, meaning one changed copy is enough.
Also known as: growth hormone deficiency, isolated partial; growth hormone insensitivity, partial; growth hormone, insensitivity to, partial; short stature due to partial growth hormone receptor deficiency
Patient organizations
- Human Growth FoundationShort stature due to partial GHR deficiency · United States
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Perspectives from people navigating life with Short stature due to partial GHR deficiency.
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