Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome: A Report From Saudi Arabia

This case report from Saudi Arabia described a 16-year-old boy with pituitary stalk interruption syndrome (PSIS), presenting with short stature and undescended testis. The patient exhibited underdeveloped secondary sexual characteristics and hypopituitarism, with normal thyroid and adrenal function. MRI findings showed an absent pituitary gland and an ectopic posterior pituitary gland. Despite the rarity of PSIS, the report emphasized the importance of considering it in differential diagnoses for short stature. The patient was treated with growth hormone and testosterone therapy, highlighting the potential for achieving normal height if diagnosed before epiphyseal closure.