Overview
Non-acquired combined pituitary hormone deficiency (CPHD) is a rare condition where the pituitary gland — a small but very important gland at the base of the brain — fails to produce enough of several key hormones from birth or early in life. Unlike acquired forms caused by injury or tumors, this type is present from birth and is usually caused by genetic changes or problems with how the pituitary gland develops. The pituitary gland normally controls growth, thyroid function, stress response, reproduction, and water balance in the body. When multiple hormones are missing or too low, many body systems are affected at once. Children with this condition often show signs early in life, such as very slow growth, low blood sugar in newborns, and problems with thyroid function. Some children may also lack hormones that control puberty or the body's response to stress and illness. Boys may have underdeveloped genitalia at birth. Brain imaging sometimes shows structural differences in the pituitary gland or nearby brain structures. The good news is that hormone replacement therapy is available for all the missing hormones. With early diagnosis and proper treatment, most people with this condition can live full, healthy lives. Treatment typically involves daily hormone medications and regular monitoring by a specialist. The earlier treatment begins, the better the outcomes for growth, development, and overall health.
Key symptoms:
Very slow or stunted growth in childhoodLow blood sugar (hypoglycemia), especially in newbornsUnderactive thyroid (hypothyroidism) causing tiredness, weight gain, and slow developmentDelayed or absent pubertySmall or underdeveloped genitalia in newborn boysExtreme fatigue and low energyPale, yellowish skinSensitivity to coldDifficulty handling physical stress or illnessFrequent low blood pressureInfertility or reduced fertility in adultsDiabetes insipidus (excessive thirst and urination) in some casesIntellectual or developmental delays in severe or untreated cases
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Non-acquired combined pituitary hormone deficiency.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Non-acquired combined pituitary hormone deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific hormones are deficient in my child, and what are the risks if each one is not treated?,What are the sick day rules for our family, and when should we go to the emergency room?,Should we have genetic testing, and which genes should be tested?,How often will we need to come in for monitoring, and what tests will be done at each visit?,What should we tell teachers, school nurses, and other caregivers about managing this condition?,Will my child go through puberty normally, and will they be able to have children in the future?,Are there any clinical trials or new treatments we should know about?
Common questions about Non-acquired combined pituitary hormone deficiency
What is Non-acquired combined pituitary hormone deficiency?
Non-acquired combined pituitary hormone deficiency (CPHD) is a rare condition where the pituitary gland — a small but very important gland at the base of the brain — fails to produce enough of several key hormones from birth or early in life. Unlike acquired forms caused by injury or tumors, this type is present from birth and is usually caused by genetic changes or problems with how the pituitary gland develops. The pituitary gland normally controls growth, thyroid function, stress response, reproduction, and water balance in the body. When multiple hormones are missing or too low, many body
At what age does Non-acquired combined pituitary hormone deficiency typically begin?
Typical onset of Non-acquired combined pituitary hormone deficiency is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Non-acquired combined pituitary hormone deficiency?
2 specialists and care centers treating Non-acquired combined pituitary hormone deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.