Living with Short stature-pituitary and cerebellar defects-small sella turcica syndrome
A rare genetic condition with short height and low pituitary gland hormones.
Understanding Short stature-pituitary and cerebellar defects-small sella turcica syndrome
People have short stature and a shortage of hormones from the front of the pituitary gland. The bony space that holds the gland (the sella turcica) is small, and the gland itself is underdeveloped. Part of the brain, the cerebellum, has pointed lower edges. It has been described in three generations of one large French family. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Severe slowed growth after birth
- Delayed bone age
- Small sella turcica
- Underactive thyroid (hypothyroidism)
- Adrenal insufficiency
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 genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LHX4 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
- 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 lists changes in the LHX4 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: cphd4; lhx4-related combined pituitary hormone deficiency; pituitary hormone deficiency, combined with or without cerebellar defects; pituitary hormone deficiency, combined, type 4; short stature, pituitary and cerebellar defects and small sella turcica
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 Short stature-pituitary and cerebellar defects-small sella turcica syndrome.
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