De Morsier Syndrome

For live births: 1:10,000; equal male to female prevalence

Associated with younger maternal age

May not be identified until later in life

Reduced cortisol stress response in undiagnosed or untreated pts. Hormone tests may be normal in nonstress conditions.

Treatment of one hormone deficiency (e.g., hypothyroidism, or hypothyroidism and adrenal insufficiency) may unmask another or others (e.g., adrenal insufficiency, DI).

Unrecognized hypothalamic/pituitary axis deficiencies

Neurocognitive disorders causing agitation, seizures, or confusion in periop period

Highly phenotypically variable disorder diagnosed when at least two of three features are present: ONH, midline/CNS neuroradiographic abnormalities (may include absence of the septum pellucidum), and/or hypothalamic/pituitary abnormalities.

ONH is third most common cause of any vision impairment in children <3 y in USA.

ONH associated with other neuro abnormalities (e.g., developmental delay, autistic spectrum disorder, epilepsy, disrupted circadian rhythm).

Hypothalamic/pituitary hormone abnormalities can develop at any age and may include growth hormone deficiency (most common), hypothyroidism, ACTH deficiency, and DI (least common).

Limb abnormalities (e.g., syndactyly) and MSK abnormalities (e.g., spastic quadriparesis, hypotonia) also may be present.

Majority of cases are sporadic, and less than 1% have currently identifiable genetic mutation.

Environmental risk factors may include antenatal drug/ETOH use and low socioeconomic status.

Genetic mutations in HESX1, SOX2, SOX3, or OTX2 may be causal.

See also Adrenal Insufficiency, Hypopituitarism, Hypothyroidism, and Seizure.