Background Patients with congenital hypopituitarism might have the classic triad of pituitary stalk interruption syndrome (PSIS), which consists of: an interrupted or thin pituitarys talk, an absent or ectopic posterior pituitary (EPP), and anterior pituitary hypoplasia or aplasia. The most remarkable clinical manifestations of patients with PSIS was growth retardation.
Objective To analyse the clinical, auxological and radiologic characteristics of the patients with PSIS to achieve better comprehension of this pathology.
Methods Data of patients with PSIS were retrospectively analysed for the clinical, laboratory and imaging features.
Results Five patients were included (4 girls and 1 boy). They are aged at the first clinical manifestation from 1 month to 3 years. The symptoms that led to the diagnosis were failure to thrive in four cases and polyuria-polydipsia syndrome in one case.
A complete growth hormone deficiency was confirmed in four cases, one was complicated with central hypothyroidism and one was accompanied by central adrenocortical hypofunction.
The last patient present only central diabetes insipidus.
Hypothalamo-pituitary MRI was performed in all of the patients showed one or more elements of the classic triad.
A causative mutation was studied in two patients. None HESX1 or LHX4 mutations was found.
Conclusion The PSIS is relatively frequent. The outcome is progressive evolution towards panhypopituitarism. The treatment consists in hormone replacement therapy.