Living with Pituitary hormone deficiency, combined, 2
A rare genetic condition in which the pituitary gland makes low levels of several hormones, affecting growth and puberty.
Understanding Pituitary hormone deficiency, combined, 2
People have low growth hormone, thyroid-stimulating hormone, LH, FSH and prolactin, and sometimes low ACTH. Unlike other forms, newborns usually show no signs at birth. Thyroid problems may appear soon after birth. Growth hormone lack can lead to short stature, and LH and FSH lack can disrupt puberty and fertility.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Underactive thyroid (hypothyroidism)
- Low growth hormone and prolactin levels
- Delayed or disrupted puberty (hypogonadism)
- Low adrenal hormone (adrenal insufficiency)
- Seizures
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 The MAGIC 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 PROP1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ateliotic dwarfism with hypogonadism; combined pituitary hormone deficiencies, genetic form caused by mutation in prop1; hanhart dwarfism; pituitary dwarfism iii; pituitary hormone deficiency, combined, type 2; prop1 combined pituitary hormone deficiencies, genetic form
Patient organizations
- The MAGIC FoundationPituitary hormone deficiency, combined, 2 · United States
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