Pituitary Stalk Transection Syndrome is a rare form of hypopituitarism described in the literature. It requires long-term follow up as hormonal deficiencies can manifest at different stages in life1. The name seems to be a misnomer, as most patients have no history of surgery or trauma.
Our patient, a 34 year old woman, with multiple pituitary hormonal deficiencies (MPHD), presented at 14 years of age with primary ovarian failure and short stature. She was subsequently noted to have MPHD and commenced on glucocorticoid, thyroxine and sex hormone replacement. She recently presented to our multidisciplinary pituitary service for review of her diagnosis in the context of ongoing fatigue and lethargy, impacting her day-to-day function. Physical examination revealed short stature and myxoedema, with biochemistry demonstrating panhypopituitarism. MRI demonstrated the pathognomonic features of hypoplastic adenohypophysis, absent stalk and ectopic posterior pituitary bright spot (EPPBS) at the median eminence2. There was no history of perinatal, childhood or adult trauma. Structural pituitary abnormalities have been reported in about two thirds of patients with hypopituitarism and are more common in MPHD2. The absence of stalk in our patient is an important indicator of MPHD.
Postulated mechanisms for “pituitary stalk transection syndrome” include, perinatal trauma and congenital hypoplasia or dysplasia with early foetal maldevelopment of midline structures, resulting in the failure of complete descent of the neurohypophysis and its investing vascular plexus into the sella turcica1. This syndrome is an important differential in patients presenting with hypopituitarism and should prompt a full pituitary evaluation including MRI. With the recent change in funding for growth hormone replacement in Australia, evaluation of and replacement for growth hormone deficiency is an important consideration in our patient due to the potential to improve quality of life.