Living with Pituitary hormone deficiency, combined, 1
A genetic hormone condition in which the pituitary gland makes too little of several hormones, affecting growth and thyroid function.
Understanding Pituitary hormone deficiency, combined, 1
It can lead to short stature, severe slow growth after birth, an underactive thyroid and low growth hormone. Babies may have feeding difficulty, jaundice and failure to thrive. Other features include a hoarse voice, thickened or discolored skin, changes in the nose and facial features, and intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Underactive thyroid (hypothyroidism)
- Poor weight gain (failure to thrive)
- Feeding difficulties
- Hoarse voice
- Low growth hormone and prolactin levels
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Raymond A. Wood Foundation
- 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
- 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 the POU1F1 gene cause this condition. It can be inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: combined pituitary hormone deficiencies, genetic form caused by mutation in pou1f1; cphd1; pituitary hormone deficiency, combined or isolated, 1; pou1f1 combined pituitary hormone deficiencies, genetic form; pou1f1-related combined pituitary hormone deficiency
Patient organizations
- Raymond A. Wood FoundationPituitary hormone deficiency, combined, 1 · United States
You are more than your diagnosis
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