Pituitary Stalk Interruption Syndrome Diagnosed in the Fourth Decade: A Rare Cause of Pathological Fracture in Adulthood
https://doi.org/10.15605/jafes.041.S1
- Author:
Muhammad Atif Sadiqqi bin Nor Azlan
1
;
Amalina Haydar Ali Tajuddin
2
Author Information
1. Department of Internal Medicine, Sultan Ahmad Shah Medical Centre
2. Department of Internal Medicine, Kulliyyah of Medicine
- Publication Type:Journal Article
- MeSH:
Fractures, Spontaneous;
Pituitary Gland
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):86-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Pituitary stalk interruption syndrome (PSIS) is a rare
congenital disorder characterized by the neuroradiological
triad of an absent or interrupted pituitary stalk, ectopic
posterior pituitary, and anterior pituitary hypoplasia.
It is typically diagnosed in infancy or childhood due to
growth failure or delayed puberty. Diagnosis in adulthood
is uncommon and may occur after decades of untreated
hypopituitarism.
Case:A 34-year-old Malay male with underlying physical and
intellectual disability presented after a mechanical fall
resulting in left slipped capital femoral epiphysis, an unusual
pathological fracture in adulthood. Clinical examination
revealed marked infantilism with complete absence of
secondary sexual characteristics (Tanner stage I). Laboratory
evaluation demonstrated combined pituitary hormone
deficiency, including severe central hypothyroidism,
profound hypogonadotropic hypogonadism, and central
adrenal insufficiency. Growth hormone and insulin-like
growth factor 1 were undetectable, while prolactin was
mildly elevated, consistent with pituitary stalk disruption
due to loss of hypothalamic dopaminergic inhibition. Bone
age assessment showed severe delay, corresponding to 15
years. Pituitary magnetic resonance imaging demonstrated
the classical PSIS triad: anterior pituitary hypoplasia with
partial empty sella, a high T1 signal nodule at the median
eminence representing ectopic posterior pituitary, and
non-visualization of the infundibulum, consistent with an
absent pituitary stalk. Birth history revealed premature
breech delivery, a recognized perinatal risk factor. The
patient was commenced on hormone replacement therapy,
including levothyroxine, hydrocortisone, testosterone
undecanoate, and calcium–vitamin D supplementation.
Conclusion:This case illustrates that PSIS may remain undiagnosed into
adulthood, leading to severe consequences of long-standing
hypopituitarism such as osteoporosis and pathological fractures. Clinicians should consider hypopituitarism in
adults presenting with unexplained fractures and delayed
sexual maturation, particularly when supported by a
suggestive perinatal history.
- Full text:2026080414265475221EP_A120.pdf
