Rare diseases · Sign or symptom
Decreased response to growth hormone stimulation test
HP:0000824
What it means
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults.
Rare diseases that can present with this64
Very common80–99%
7- Bonnemann-Meinecke-Reich syndrome
- Boomerang dysplasia
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Woodhouse-Sakati syndrome
- X-linked intellectual disability with isolated growth hormone deficiency
Common30–79%
19- Acrootoocular syndrome
- ANE syndrome
- Combined pituitary hormone deficiencies, genetic forms
- Non-acquired isolated growth hormone deficiency
- Non-acquired panhypopituitarism
- Non-functioning pituitary adenoma
- Prader-Willi syndrome
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Prader-Willi syndrome due to translocation
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1C
- Pycnodysostosis
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Wiedemann-Rautenstrauch syndrome
- Wiedemann-Steiner syndrome
- Xq21microdeletion syndrome
Sometimes5–29%
29- 15q24microdeletion syndrome
- 16p12.1p12.3triplication syndrome
- 4H leukodystrophy
- Alobar holoprosencephaly
- Alström syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- EEC syndrome
and 21 more in this range
Rare1–4%
9- Dubowitz syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Lysinuric protein intolerance
- Pseudohypoparathyroidism type 1B
- Shwachman-Diamond syndrome
- Spondyloenchondrodysplasia
- Steinert myotonic dystrophy
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
and 1 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.