Congenital Hypopituitarism Associated with Pituitary Stalk Interruption Syndrome: a Case Report

Pituitary stalk interruption syndrome is a rare congenital anomaly of the hypothalamic-pituitary region, often leading to multiple anterior pituitary hormone deficiency. Accumulating research postulates that hypothalamic-pituitary defects depend on variant changes in genes responsible for pituitary morphogenesis, particularly during early embryogenesis.
We present a clinical case of a patient with an identified variant substitution in the GLI2 gene associated with impaired hypothalamic-pituitary development. The patient has been diagnosed with secondary hypothyroidism and growth hormone deficiency, along with signs of possible hypogonadotropic hypogonadism.
Clinical features, current views on etiology, and the critical need for early diagnosis and long-term follow-up to detect new hormonal deficiencies and timely adjust replacement therapy are discussed.

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