Contributed by
McMaster University
Asma Al Hatmi, and Secil Eksioglu.
History
Adolescent female presented with a history of congenital panhypopituitarism, short statute and delayed bone age.
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Question
What is the diagnosis?
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Correct answer
Pituitary Stalk Interruption Syndrome (PSIS).
Discussion
•PSIS is a congenital abnormality characterized by a triad of thin or interrupted pituitary stalk, small or absent pituitary gland, and an absent or ectopic pituitary gland.
•It is very rare and estimated incidence is 0.5/1000000 births.
•PSIS is believed to be either due to mutations in the genes involved in pituitary embryogenesis (PROP1, LHX3, HEXSX1, PROKR2 and GPR161) or perinatal asphyxia.
•PSIS can present with anterior pituitary hormone deficiencies (growth hormone, 100%; gonadotropin, 97.2%; corticotropin, 88.2%; and thyrotropin, 70.3%); however, hyperprolactinaemia (6.9%) due to lack of dopaminergic inhibition can be seen. Posterior pituitary function is intact.
•PSIS is also associated with other midline defects, such as broad nose, cleft lip and palate, single incisor, and nasal aperture stenosis.
•MRI shows the characteristic triad of absent pituitary stalk, anterior pituitary hypoplasia and ectopic posterior pituitary. The ectopic neurohypophysis is most commonly seen in the infundibular recess or the hypothalamus .
•Patients with PSIS needs hormone replacement.
Differential diagnosis
No other differentials.
Additional images
References
- Burcin Agridag Ucpinar BA, Ucar A, Ozmen A.Pituitary Stalk Interruption Syndrome: Presentation of a Rare Case. J Pediatr Neurol 2019;17:176–179. DOI https://doi.org/ 10.1055/s-0038-1661412. ISSN 1304-2580.