Living with Non-acquired combined pituitary hormone deficiency with spine abnormalities
A rare genetic condition with low pituitary hormones, hearing loss, and a stiff, short neck.
Understanding Non-acquired combined pituitary hormone deficiency with spine abnormalities
The pituitary gland is usually underdeveloped, leading to low levels of several hormones (panhypopituitarism). People often have a stiff neck (rigid cervical spine) and a short neck with limited turning, plus varying hearing loss. Mild developmental delay or intellectual disability is rare. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped pituitary gland
- Short stature
- Short neck
- Curved spine (kyphoscoliosis)
- Hearing loss from the inner ear
- Low thyroid function due to the pituitary gland
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 ear, nose, and throat specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LHX3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: 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 Pituitary Network Association
- 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 LHX3 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: combined pituitary hormone deficiency type 3; cphd3; lhx3-related combined pituitary hormone deficiency; non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome; non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome; pituitary hormone deficiency, combined, type 3
Patient organizations
- Pituitary Network AssociationPituitary deficiencies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Non-acquired combined pituitary hormone deficiency with spine abnormalities.
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