Endocrine manifestations in Joubert syndrome—literature review

Abstract

<abstract> <p>Joubert syndrome (JS) is a heterogeneously inherited, rare, autosomal recessive disorder characterised by neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements and a distinctive cerebellar and brainstem malformation called the molar tooth sign (MTS). Patients with JS may develop hypothalamic-pituitary dysfunction, leading to growth hormone deficiency, hypothyroidism, adrenal insufficiency and hypogonadism. This review summarizes the screening, diagnosis, and management of these conditions in JS.</p> </abstract>