Living with Pituitary stalk interruption syndrome
A condition present from birth in which the pituitary gland's stalk is thin or broken, causing growth hormone and other hormone problems.
Understanding Pituitary stalk interruption syndrome
The pituitary stalk is very thin or interrupted, the back part of the gland is misplaced or absent, and the front part is small or absent. People have lasting growth hormone lack. Newborns may have low blood sugar, jaundice and a small penis. Later in childhood, short stature, seizures and developmental delay can occur. It is confirmed by MRI.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Poor weight gain (failure to thrive)
- Delayed puberty
- Underactive thyroid (hypothyroidism)
- Small penis (micropenis)
- Misplaced posterior pituitary gland (seen on MRI)
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 brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
GARD says the cause is unknown. In familial cases, rare changes in the HESX1, LHX4, OTX2, SOX3 and PROKR2 genes can be the cause, with autosomal dominant or recessive inheritance.
Also known as: ectopic neurohypophysis; hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary; psis
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 Pituitary stalk interruption syndrome.
Explore research for Pituitary stalk interruption syndrome
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