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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

Combined pituitary hormone deficiency is a condition in which the pituitary gland makes too little of two or more of its hormones.

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

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect 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
Bring these questions to your next doctor visit
Which hormones are low, and how will they be monitored?
Would genetic testing help find the cause?
How can growth and puberty be followed with an endocrinologist?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Dominant, Autosomal Recessive, X-Linked

GARD says changes in genes cause this condition. It can be inherited in an autosomal dominant, autosomal recessive or X-linked pattern.

GeneticEndocrineUrinary and Reproductive

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

Source: NIH GARD · Combined pituitary hormone deficiencies, genetic formGARD ID 10602 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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