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Technically, “panhypopituitarism” (pan meaning “all”) requires deficiency of all 8 pituitary hormones; however, the term generally is used for deficiencies of >1 pituitary hormone.
- Congenital forms affect both sexes equally and are diagnosed early in childhood.
- The epidemiology of acquired or secondary forms depends on the underlying cause.
Most cases are not thought to be genetic; however, there are rare autosomal recessive, autosomal dominant, and X-linked forms.
- Pathology is based on specific deficiency or deficiencies.
- Growth hormone (GH): hypoglycemia in newborns and poor growth in patients older than 6–12 months
- Adrenocorticotropic hormone: hypocortisolism
- Thyroid-stimulating hormone (TSH): hypothyroidism
- Luteinizing hormone (LH)/follicle-stimulating hormone (FSH): hypogonadism
- Antidiuretic hormone: diabetes insipidus
- Prolactin: Hyperprolactinemia can accompany hypothalamic causes of hypopituitarism.
- Idiopathic (some may be due to hypophysitis, [inflammation of the pituitary gland])
- Absence of the pituitary (empty sella syndrome is a risk)
- Pituitary malformations (ectopic posterior pituitary, hypoplastic infundibular stalk, hypoplastic pituitary)
- Genetic disorders due to mutations in genes or transcription factors (POUF1, HESX1, LHX3, LHX4, OTX2, SOX2, SOX3, PTX2, PROP1, etc.)
- Familial panhypopituitarism
- Rathke cleft cyst
- Birth trauma or perinatal insult
- Surgical resection of the gland or damage to the stalk
- Traumatic brain injury
- Iron deposition secondary to chronic transfusion therapy (e.g., β-thalassemia)
- Viral encephalitis
- Bacterial or fungal infection
- Pituitary infarction
- Pituitary aneurysm
- Cranial irradiation
- Primitive neuroectodermal tumor (medulloblastoma)
Commonly Associated Conditions
- Midline defects such as cleft lip/palate, hypotelorism, single central maxillary incisor
- Septo-optic dysplasia (de Morsier syndrome)