Abstract
Pituitary stalk interruption syndrome (PSIS) is one of the causes congenital hypopituitarism. It is based on a genetically-linked disorder of pituitary morphogenesis.
Typical findings on magnetic resonance imaging (MRI) of the brain are hypoplasia or aplasia of anterior pituitary lobe, ectopic posterior pituitary lobe, and absent or thin pituitary stalk. A rare cause of acquired hypopituitarism in children may be autoimmune hypophysitis.
We present a case of an 11-year-old girl with simultaneously diagnosed combined pituitary growth hormone deficiency, central hypothyroidism, central hypocorticalism and the initial phase of diabetes mellitus type 1 (DM). The diagnosis of hypopituitarism was based on a growth disorder with progressive growth retardation from the age of 7 years.
In the differential diagnosis, autoimmune hypophysitis was primarily considered, but the brain MRI finding suggested PSIS. The deficiency of cortisol and growth hormone affected the manifestation of DM and the initial need for insulin before initiating hydrocortisone and growth hormone replacement therapy.