Pituitary stalk interruption syndrome: baseline characteristics

and long-term evolution of two pediatric cases with rare

presentation
Lia Usatiuc, Cret Victoria, Carmen Asavoaie

Department of Endocrinology and Diabetes, First Pediatric Clinic; Clinical Emergengy Hospital for
Children Cluj-Napoca; Department of Radiology, Clinical Emergengy Hospital for Children Cluj-
Napoca; University of Medicine and Pharmacy “Iuliu Hatieganu” Cluj-Napoca.

Abstract
Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the presence of a thin or
absent pituitary stalk in association with a hypoplastic or aplastic anterior pituitary or an ectopic
neurohypophysis. 1 The phenotype associated with PSIS has a high incidence of various combination
of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. 2 The age at onset
is variable, but typical presentation is evolutive combined anterior pituitary deficiencies. 1,3
Case reports: We describe two pediatric cases who presented features that were rarely reported.
The first one was a 6 year old boy who was admitted in our department presenting polyuro-
polydipsic syndrome and underdeveloped external genitals. He had a history of neonatal micropenia
and a familial history of panhipopituitarysm and midline malformations. Initially, his urine output in
the hospital was in the range of 5000 ml/24 hours, with a low urine specific gravity of 1005-1010, and
no increase after the water deprivation test, with an appropriate response after desmopresin
administration. His Copeptin (CT pro-AVP) value was decreasead. Serum gonadotropin hormone
levels (FSH, LH) and testoserone were low, with no response afer GnRH-analogue stimulation test.
The IGF-1 value was low-normal, but he presented a normal height (-0,4 SD). No other hormonal
deficites were present except low levels of prolactin. Pituitary MRI showed anterior pituitary
hypoplasia, absence of the pituitary stalk and no evidence of neurohypophysis.
The second case, a 4 year old girl, was reffered to our hospital for the evaluation of growth
retardation (- 3,3 SD for height, bone age 2 years). She had a history of neonatal prolonged jaundice
and intermittent seizures from the age of 2 months, with no identified etiology, for which she
received fenobarbital for 2 years. The initial evaluation diagnosed the severe GH deficiency, and
during the next 3 years of follow-up she developed ACTH, TSH and FSH-LH deficiencies. MRI
examination indicated anterior pituitary hypoplasia, absence of pituitary stalk and ectopic
neurohypophysis.
Conclusion: The phenotype associated with PSIS can be highly heterogenous regarding clinical,
biological and radiological presentation. It is important to increase the awareness of PSIS, especially
in the neonatal period when the features of PSIS can be easily overlooked. We also emphasize the
importance of patients follow-up for as an essential part of an adequate management.

Key words: Pituitary stalk interruption syndrome, combined anterior pituitary deficiencies, central
diabetes insipidus, neonatal, MRI
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