Short Stature: Think About the Pituitary Stalk Interruption Syndrome

Abstract

Pituitary stalk interruption syndrome (PSIS) is an uncommon congenital defect of the pituitary gland. It is considered one of the rare endocrinal causes of abnormally short stature. Herein, we present a case of a four-year-old girl who consulted for short stature and delayed growth. The patient's history did not include any past medical or surgical pathology. Birth history revealed a full-term delivery with a breech presentation. Clinically, the patient had a small stature, beneath the third percentile. Magnetic resonance imaging findings, through a typical triad, were consistent with PSIS. We describe through this report, what we believe is a rare typical case of PSIS. This case was discovered in a young patient with pituitary dwarfism. We hope that the concise and synthesized structure of this case report will help physicians acquire the necessary reflexes to notice and diagnose the already underdiagnosed PSIS.

Pituitary Stalk Interruption Syndrome in a Child: A Rare Case Report with Literature Review

“…The suggested mechanism for pituitary stalk interruption syndrome can involve genetic mutations in various genes, such as LHX3/LHX4, PIT1, PROP1, TGIF, PROKR2, OTX2, GPR161, HESX1, and ROBO1, which are linked to the development of the anterior pituitary gland [3,6]. Additionally, some studies have suggested that Breech delivery, cesarean section, and neonatal hypoxemia may result in damage to the pituitary gland [5,7]. The parents of the existing case reported no complications during breech delivery and neonatal stage, and unfortunately, no genetic testing was performed for the case.…”

“…PSIS has a significant impact on patient health and quality of life. The underlying causes and mechanisms of this condition remain poorly understood, yet, it is thought to be a result of a complex interplay of genetic mutations and environmental factors [5,6].…”