Living with Isolated congenital growth hormone deficiency
A hormone condition in which the body makes very little growth hormone, leading to slow growth and short stature.
Understanding Isolated congenital growth hormone deficiency
Growth hormone is a protein needed for normal growth of bones and tissues. Without enough, children grow slowly and are unusually short. It is usually clear by early childhood. There are four types, which differ in how severe they are, which gene is involved, and how they are inherited. In type II, nearly half of people have an underdeveloped pituitary gland, the gland that makes growth hormone.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Slow growth (growth delay)
- Delayed bone growth (skeletal maturation)
- Delayed puberty
- Doll-like face with a prominent forehead
- High-pitched voice
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Raymond A. Wood Foundation 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, 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
Changes in genes cause this condition. GARD lists autosomal dominant, autosomal recessive, and X-linked inheritance, depending on the type.
Also known as: congenital ighd; congenital isolated gh deficiency; congenital isolated growth hormone deficiency; familial isolated growth hormone deficiency; icghd; ighd
Patient organizations
- Raymond A. Wood FoundationIsolated congenital growth hormone deficiency · United States
- Human Growth FoundationIsolated congenital growth hormone deficiency · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated congenital growth hormone deficiency.
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