
Living with Combined pituitary hormone deficiencies, genetic form
A genetic condition where the pituitary gland makes too little of two or more hormones, affecting growth and development.
Understanding Combined pituitary hormone deficiencies, genetic form
The pituitary gland sits at the base of the brain and makes hormones for growth, sexual development, energy use and stress response. Children often grow slowly, and short stature usually shows in early childhood. Infants may have jaundice, low blood sugar or genital differences. Later features can include fatigue, delayed or absent puberty and trouble with fertility.
Signs & symptoms
Symptoms depend on which hormones are low. GARD lists these among the most common:
- Slow growth and short stature
- Tiredness (fatigue)
- Delayed or absent puberty
- Trouble with fertility
- Low blood pressure
- Low thyroid function from the pituitary
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, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association, 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 Resolve: The National Infertility Association 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 says changes in genes cause this condition. It can be inherited in an autosomal dominant, autosomal recessive or X-linked pattern.
Also known as: combined pituitary hormone deficiencies, genetic forms; combined pituitary hormone deficiency genetic form; familial congenital hypopituitarism; genetic hypopituitarism; multiple pituitary hormone deficiencies, genetic forms; multiple pituitary hormone deficiency genetic form
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined pituitary hormone deficiencies, genetic form.
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