Endocrine Abstracts

Introduction: Joubert Syndrome (JS) is a rare ciliopathy condition, presenting distinctive cerebellar and brain stem malformation called the “molar tooth sign” (MTS) on brain imaging. Patients suffer from neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements. Endocrine disorders are only rarely evaluated, to date only few reports highlight the importance of hormonal evaluation.Material...

Introduction: Lymphocytic hypophysitis is rare in children, with only <100 cases described in the medical literature, of which only a few are biopsy-proven. Usually results in hypophysis and pituitary enlargement. Arginine vasopressin deficiency and growth retardation are the most significant presenting symptoms in children with hypophysitis, different from teenagers in whom adrenal insufficiency, hypogonadism, headache, or diplopia might be the leading ma...

Introduction: Adrenocortical carcinoma (ACC) is a rare and aggressive tumor. Mitotane has been the mainstay adjuvant therapy of ACC. The study aimed to describe patients diagnosed with precocious puberty (PP) and other endocrinological disorders during mitotane treatment.Material and methods: This retrospective study enrolled four children with ACC treated with mitotane complicated by PP. The patients were diagnosed at C...