We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency. The girl presented sexual developmental delay with the laboratory tests suggesting hypogonadotropic hypogonadism, while the boy was in normal puberty sexual development, with the normal activation of the hypothalamic-pituitary-gonadal(HPG)axis. During the treatment of central diabetes insipidus with desmopressin acetate(DDAVP), the pituitary MRI of the boy and the girl suggested that the enlarged pituitary stalk progressed significantly after follow-up of 7 months and 5 months, respectively. After a multidisciplinary joint discussion, the surgery was performed by neurosurgery for biopsy, and the progressively thickened pituitary stalk of the 13-year-old boy and the 12-year-old girl were consequently confirmed to be Langerhans histiocytosis and germ cell tumor.
In these two cases of secondary CDI with pituitary stalk thickening, intracranial tumors and inflammatory diseases should be considered to be the first manifestations. Adequate assessment of endocrine, imaging, and clinical performance are extremely important. To those children, who were initially diagnosed as having idiopathic CDI with pituitary stalk thickening, especially accompanying with the signs of growth retardation, sexual developmental delay or hypothyroidism and so on, closely follow-up observation and appropriate time of pituitary stalk biopsy are necessary for the etiological diagnosis and therapy of the CDI with pituitary stalk thickening.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology