Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but about 1000 cases have been reported to date. It is characterized by a triad associating a very fine or interrupted pituitary stalk, an ectopic posthypophysis (PH) or absent and a hypoplasia of the anterior pituitary, visible on the MRI. The etiology of PSIS remains unknown.
Observation: We report the case of a newborn male, the first born of a couple consanguin.Post-matured, born by high way with an average adaptation to the ectopic life.The diagnosis is revealed by the presence of hypoglycemia persistent, prolonged jaundice associated with a micro-penis and cryptorchidism suggestive of a hypothalamohypophyseal deficit.The karyotype was male 46 XY with no abnormalities detected.Hormonal exploration revealed a combined pituitary involvement: adrenal insufficiency, hypogonadism hypo-gonadotropic, central hypothyroidism with GH deficiency.The hypothalamic-pituitary MRI showed hypoplasia of the anterior pituitary, a pituitary stalk interrupted with a PH in retro-chiasmatic.
Comment: Our patient had severe combined anterior pituitary deficiency, which explains the clinical picture. The diagnosis of PSIS is important from birth to avoid hypoglycaemia and adrenal insufficiency and their cerebral and vital risks. The prognosis is good if the diagnosis and treatment are early.
Conclusion: PSIS is a rare congenital malformation, responsible for isolated or multiple anterior pituitary deficiency. MRI is currently the most effective means of imaging for diagnosis and a prognostic approach. Treatment is based on substitution therapy for deficient hormones. The risk of family recurrence is less than or equal to 5%.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology