ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 EP107 | DOI: 10.1530/endoabs.63.EP107

Pituitary stalk interruption syndrome: about 9 case report

Tahri Abir, Abdellaoui Wahiba, Rouf Siham & Latrech Hanane


Department of Endocrinology-Diabetology, Mohammed VI Hospital, University Hospital, University Mohamed First, Oujda, Morocco.


Introduction: Pituitary Stalk Interruption Syndrome (PSIS) is characterized by the presence of a thin or absent pituitary stalk, associated with hypoplastic or aplastic anterior pituitary and ectopic posterior pituitary (EPP) on magnetic resonance imaging (MRI). The objective of this study is to describe the clinical, hormonal and radiological aspects of PSIS.

Patients and methods: This is a retrospective longitudinal study of 9 cases of PSIS collected in the Endocrinology-Diabetology Department of Oujda’s Mohammed VI University Hospital.

Results: Seven out of 9 patients with PSIS were male. The average age was 9,5 years and there were no familial cases. No history of the neonatal incident was found. The reason for referral was a short stature in all patients. An impuberism was found in 4 cases, and 2 cases had associated diabetes insipidus. Clinical examination revealed severe growth retardation in 55% of the patients and micropenis in 57% of the cases. The hormonal evaluation showed isolated GH deficiency in 33.3% of the cases and combined GHD in 66.7% of the cases. Pituitary MRI findings were pituitary stalk for all patients, and was associated with anterior pituitary hypoplasia in 2 cases, an ectopic posterior pituitary in 4 cases and absence of posterior pituitary in 1 case. The evolution was favourable with an average height gain of 10 cm after one year of GH therapy.

Conclusion: The signs and symptoms of PSIS during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. Early diagnosis and treatment of this rare disease can prevent permanent short stature of the patient and thus pledge an excellent opportunity to reach their normal height after GH therapy.

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