Endocrine Abstracts

JOINT2942

Background: Pituitary stalk interruption syndrome (PSIS) is a congenital disorder characterised by the triad of an absent or exceedingly thyn pituitary stalk, an ectopic or absent one of pituitary part. PSIS is a common cause of congenital hypopituitarism, and causes a growth hormone deficiency. PSIS features in later childhood may inculde: short stature and delayed puberty. The prevalence of PSIS is unknown. The diagnosis is confirmed through MRI. Treatment should commence as soon as a diagnosis is established to avoid complications, and consists of hormone replacement.

Case report: The 10- year- old boy was diagnosed with short stature. He was born from a normal pregnancy, delivery in 40hbd, in good general condition, weight 4800g, length 63cm. According to anthropometric data, from early childhood, height was below the 3rd percentile. Due to decreased fT4 levels with normal TSH levels, l-thyroxine was included in the therapy. When the patient became euthyroid, he was diagnosed with growth hormone deficiency. Magnetic resonance imaging visualized pituitary stalk interruption syndrome. Actually during therapy with recombinant growth hormone we observed increasing velocity of growth. At puberty, the boy was diagnosed with hypogonadotropic hypogonadism and started therapy with gonadotropins. Genetic testing excluded a mutation within the complex pituitary hormone deficiency genes.

Results: 1. PSIS is a rare disease with various clinical characteristics. 2. Diagnosis of PSIS is often delayed, because signs and symptoms are often not evident during the neonatal period. 3. Early diagnosis of hypothyroidism, growth hormone deficiency, hypogonadtropic hypogonadism and appropriate treatment gives a chance for normal development of the child.