Living with Short stature due to growth hormone secretagogue receptor deficiency
A rare genetic hormone condition that slows growth after birth and causes short height.
Understanding Short stature due to growth hormone secretagogue receptor deficiency
Children grow slowly after birth and end up short. The pituitary gland usually looks typical, though a small front part of the gland has been reported. Other features can include delayed bone maturation, low body weight, low IGF-1 levels, belly pain and vomiting. Puberty may be delayed. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth
- Short stature
- Delayed bone maturation
- Low body weight
- Low IGF-1 levels in the blood
- Belly pain and vomiting
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 GHSR 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
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: 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 Human Growth 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 lists changes in the GHSR gene. It may be inherited in an autosomal dominant way (one changed copy) or an autosomal recessive way (a changed copy from each parent).
Also known as: ghdp; ghrelin receptor deficiency; short stature due to ghsr deficiency
Patient organizations
- Human Growth FoundationShort stature due to growth hormone secretagogue receptor deficiency · 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 secretagogue receptor deficiency.
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