Pituitary Stalk Interruption Syndrome.

Tehreem Fatima,Hassan Mumtaz,Nusrat Jahan,Kainat Muzaffar,Sajjad Hussain Chandio

doi:10.7759/cureus.10518

Abstract

Pituitary stalk interruption syndrome (PSIS) is a rare, congenital disorder characterized by a triad of a thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary, and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It can either present at birth or later in life. PSIS is very heterogeneous with respect to its hormonal, clinical, and radiological presentation. The patient described is an 18-year-old male who presented with complaints of short stature and underdeveloped secondary sexual characteristics with weight and height of less than three percentiles for his age. The secondary sexual characteristics were consistent with Tanner Stage II. Some of the pituitary hormones were also deficient. Wrist X-ray was compatible with a bone age of a seven- to eight-year-old. MRI confirmed the diagnosis of PSIS (pituitary stalk interruption syndrome).

Highlights

Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder with a reported incidence of 0.5/100,000 live births [1]
Pituitary stalk interruption syndrome (PSIS) is a rare, congenital disorder characterized by a triad of a thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary, and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI)
MRI confirmed the diagnosis of PSIS

Summary

Introduction

Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder with a reported incidence of 0.5/100,000 live births [1]. The patient was a young man of an average build without any abnormal facial features, who was fully aware of time, space, and person He had short stature and underdeveloped secondary sexual characteristics with decreased facial, pubic, and axillary hair growth. A well-defined nodule noted in the median eminence in the tuber cinereum of the floor of the third ventricle measuring 2.3 x 3.8 x 2.8 dimensions It appears high on T1 and T2 weighted images and suppressed on Fat-Sat (Fat Saturation pulses are short duration radiofrequency pulses to null the signal from fat tissue) which together with the absence of normally located bright signals of the neurohypophysis and the pituitary stalk on the sagittal images, was indicative of ectopic posterior pituitary (EPP).

Discussion

Conclusions

Findings

Disclosures