El síndrome de interrupción del tallo hipofisario (PSIS, por sus siglas en inglés) es una anomalía congénita de probable origen genético causante de hipopituitarismo, que se caracteriza por hipoplasia de la adenohipófisis, neurohipófisis ectópica e interrupción del tallo hipofisario. Suele presentarse con baja estatura y deficiencia adenohipofisaria. El retraso en el diagnóstico se relaciona con alta morbimortalidad. Se reporta el caso de un hombre de 39 años con fractura de cadera por fragilidad y posterior compromiso neurológico secundario a hiponatremia severa, hipoglucemia e hipotensión arterial. Presentaba hábito eunucoide y ausencia de caracteres sexuales secundarios, con genitales infantiles. Los paraclínicos mostraron compromiso de todas las hormonas adenohipofisarias, sin afección neurohipofisaria. Una resonancia magnética nuclear mostró hallazgos consistentes con PSIS. Abstract The pituitary stalk interruption syndrome (PSIS) is a congenital defect with a possible genetic origin which causes hypopituitarism. It consists of anterior pituitary hypoplasia, ectopic posterior pituitary and interruption of the pituitary stalk. Its clinical presentation consists mainly in short stature and anterior pituitary hormonal deficiencies. The delayed diagnosis may cause morbidity and mortality. We report the case of a 39 year old male who presented with a frailty leg fracture and neurologic involvement due to severe hyponatremia, hypoglycemia and hypotension. He lacked secondary sexual development. Laboratory examinations showed an inadequate secretion of all anterior pituitary hormones without diabetes insipidus. A magnetic resonance image showed findings consistent with PSIS.
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