Pituitary stalk interruption syndrome

Case contributed by Dr Ayaz Hidayatov

Presentation

16 year old young man with short stature, hormonal imbalance and delayed secondary sex characteristics. His 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)

Patient Data

Age: 16 years
Gender: Male

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.

Case Discussion

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.

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Case information

rID: 52152
Case created: 23rd Mar 2017
Last edited: 26th Mar 2017
Inclusion in quiz mode: Included

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