Presenter

John P. Rossiter

Authors

John P. Rossiter, Minqi Xu, Sandip SenGupta

Department of Pathology and Molecular Medicine, Queen’s University, Kingston, ON, Canada.

Clinical Summary

A 29 year old man died suddenly and unexpectedly. Following detailed postmortem examination the cause of death was determined to be ‘atherosclerotic, hypertensive, and obesity-associated heart disease’. Autopsy findings included: body mass index 45 (166cm, 124 kg); pre-pubertal male sex characteristics, cardiomegaly (680 g) with concentric left ventricular hypertrophy and severe coronary atherosclerosis, hepatomegaly/steatohepatitis, and an abnormally small pituitary gland. Additional information was obtained and indicated the decedent had pituitary failure found in infancy, hypothyroidism and hypertension, and had been using topical and injectable testosterone for years. Laboratory testing had shown long term decreased levels of LH, FSH and testosterone.

Discussion points

  1. Differential diagnosis based on macroscopic images?
  2. Diagnosis based on integration of history and morphological findings?
Reveal Diagnosis

A case of Ectopic neurohypophysis / Pituitary stalk interruption syndrome

Additional relevant investigations and comment.
Relevant immunohistochemical studies. Consideration of possible etiology/pathogenesis.

References (optional)
1. Voutetakis, A. Pituitary stalk interruption syndrome. Handbook of Clinical Neurology, 2021; 181:9-27.
https://doi.org/10.1016/B978-0-12-820683-6.00002-6
2. Diwaker, C. et al. Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events.
Pituitary, 2022; 25(4):645-652.
DOI: 10.1007/s11102-022-01243-x
3. Brauner, R. et al. Pituitary stalk interruption syndrome is characterized by genetic heterogeneity. PLoS One 2020 Dec
3;15(12):e0242358
DOI: 10.1371/journal.pone.0242358

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