Pituitary stalk interruption syndrome
Citation, DOI and case data
Short stature, hormonal imbalance and delayed secondary sex characteristics.
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Sagittal T1WI, coronal T1 and T2WI and postcontrast T1WI shows small anterior component of the pituitary gland in pituitary fossa. The posterior pituitary is ectopic and is seen as T1 hyperintense focus at the level of median eminence.
The pituitary stalk is absent.
Patient's lab investigations :
Thyroid stimulating hormone (TSH) – 7.80 uIU/mL (0.4 to 4.2)
Free thyroid hormone (FT4) - 0.55ng/dL (0.89 to 1.76)
Prolactin - 22.7 ng/mL (3.0 to 14.7)
Testosterone - 1.4 ng/dL (2 to 800)
Pituitary stalk interruption syndrome is a very rare congenital syndrome, characterized by a classic triad of anterior pituitary hypoplasia or aplasia, ectopic or aplasic posterior pituitary and interrupted pituitary stalk.
The pathogenesis of this condition is still unknown.
Growth retardation is the most common presentation in older children and adults. Most patients lack sexual development.