Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases

Abstract

<p>Joubert syndrome (JS) is a complex medical condition characterized by a pathognomonic midbrain-hindbrain malformation visible on brain imaging, which is known as the “molar tooth sign” (MTS). The presence of the MTS in the brain is the defining diagnostic criterion for JS. Individuals with JS commonly exhibit a developmental delay, hypotonia, and abnormal eye movements. In addition, neonatal breathing dysregulation is observed in about half of the cases. Midline brain defects associated with JS can lead to pituitary hormone abnormalities, thereby manifesting as multiple pituitary insufficiencies in the neonatal period, such as hypoglycemia and, in male patients, a micropenis with undescended testes. Although JS is a well-researched genetic condition, there is minimal information on the endocrinological aspects of JS. This manuscript aims to emphasize the spectrum of endocrinologic findings in JS through the retrospective evaluation of four cases characterized by combined pituitary dysfunctions, including secondary hypothyroidism, growth hormone deficiency, and panhypopituitarism. Highlighting these treatable aspects of JS is crucial, as continuous endocrinological monitoring can positively impact a patient's well-being, particularly in managing secondary adrenal and thyroid insufficiencies.</p>