Living with Laron-type isolated somatotropin defect
An inherited condition in which the body cannot use growth hormone, leading to short height and other growth-related changes.
Understanding Laron-type isolated somatotropin defect
Other features vary and may include reduced muscle strength and endurance, low blood sugar in infancy, delayed puberty, short arms and legs, and weight gain around the middle. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Delayed puberty
- Low blood sugar in infancy
- Short arms and legs
- Weight gain around the middle
- Delayed bone maturation
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.
- 4Connect with expert centers
Raymond A. Wood Foundation, 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: Raymond A. Wood Foundation, 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 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
It is often caused by changes in the GHR gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: complete growth hormone insensitivity; gh receptor deficiency; growth hormone binding protein deficiency or dysfunction; growth hormone insensitivity; growth hormone receptor deficiency; growth hormone receptor deficiency or dysfunction
Patient organizations
- Raymond A. Wood FoundationLaron-type isolated somatotropin defect · United States
- Little People of AmericaLaron-type isolated somatotropin defect · United States
- Pituitary Network AssociationLaron-type isolated somatotropin defect · United States
- Human Growth FoundationLaron-type isolated somatotropin defect · United States
- The MAGIC FoundationLaron-type isolated somatotropin defect · United States
You are more than your diagnosis
Perspectives from people navigating life with Laron-type isolated somatotropin defect.
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