ESPE Abstracts

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome with unusual growth.

Case presentation: A 14 months old young boy presented with with micropenis and cryptorchidic testis: his height was 76 cm -1DS and weight 10 kg. Father’s height 175 cm and mother’s height 164 cm. His lab investigations showed that his thyroid stimulating hormone (TSH) was 3.46uIU/ml (0.25 to 4), his free thyroid hormone level FT4 was 9.24 pg/dL (7 to 18), and his baseline cortisol was 645 nmol/l (123to 626), his insulin like growth factor IGF-1 was 13.01ng/ml (50 to 143), his testosterone level was 0.16 nmol/l, his follicle stimulating hormone FSH was 0.84uIU/ml (0.0 to 10.0), and his leutinizing hormone LH was 0.42uIU/ml (1.2 to 7.8). After HCG test the right testis descends in the scrotum and after 01 year of fellow the left testis was in scrotum. With this presentation pituitary magnetic resonance imaging was performed The results consists in pituitary stalk interruption syndrome. After one year of follow-up a stagnation of growth was observe the height was – 3 DS compared to parental target height, growth hormone therapy was initiated at the age of 24 months. After 05 years of follow with GH therapy the height of the 7 years boy was +2 DS compared to parental target height. The IGF1 135 ng/ml (49-283), the bone age was 6 years. We stopped GH therapy and a second pituitary MRI was performed with the same results PSIS. After 1 year without GH treatment, the height was still at + 2 SD and the IGF 1 was 62.80 ng/ml (52-297). An insulin test is performed results is in progress.

Conclusions: Despite the fact that this is a rare disorder, We describe an exceptional presentation of congenital PSIS with catch up of growth in young boy who presented with short stature at diagnosis and was found to have pituitary stalk interruption syndrome.