Pituitary stalk interruption syndrome: case report and literature review of a patient with late diagnosis.
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Abstract
Background: Pituitary stalk interruption syndrome (PSIS) refers to a birth defect of unclear etiology, characterized by: thin or interrupted pituitary stalk, absent or ectopic posterior pituitary lobe, and hypoplastic or aplastic anterior lobe. Its clinical presentation is related to variable degrees of pituitary hormone deficiencies (pan-hypopituitarism), such as growth hormone deficiency, hypothyroidism, and hypo-cortisolism due to ACTH adreno-corticotropic hormone deficiency. Some cases are diagnosed late.
Case report: Female patient who presented recurrent hypoglycemia and neonatal jaundice at birth, accompanied by neonatal crises, with a late PSIS diagnosis, made at 4 years of life. The hormonal tests reported hypo-cortisolemia, growth hormone deficiency, and central hypothyroidism; and pituitary-magnetic resonance imaging reported pituitary hypoplasia, ectopic neurohypophysis, and interrupted pituitary stalk. She received hormone replacement with human somatropin, levothyroxine, and hydrocortisone, with a good clinical response after diagnosis and initiation of treatment.
Conclusion: Early diagnosis of PSIS can prevent long-term problems mainly related to metabolism, stress, growth and development. Performing a pituitary-magnetic resonance imaging is the key to making the diagnosis.
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