Endocrine Abstracts

Introduction

Pituitary stalk interruption syndrome (PSIS) is a rare entity characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary seen on magnetic resonance imaging (MRI). We are presenting the clinical case of a child who presented for short stature.

Case presentation

We present the case of a 4 year and 8 months old child who presented for short stature in our outpatient department. He was the first child born to a non-consanguinous young couple, with a normal gestational period. The parents denied any significant pathological history. The child was born full term by caesarean section, Apgar score 9, birth weight of 3.7 kg and a prolonged physiological jaundice treated with phototherapy. In the neonatal period he presented episodes of hypoglycemia, considered secondary to a transient adrenal insufficiency, treated until the age of 6 months with hydrocortisone, later being lost from monitoring. He has been well with no chronic medical problems, no hospitalizations, and no surgeries, until this evaluation. Physical examination showed no facial dysmorphia, with a height at -3.5 S.D., with a normal weight, with stage 1 Tanner of pubertal development, micropenis, with both testicles present in the scrotum. Hormonal analysis showed normal thyroid stimulating hormone (TSH), freeT4, prolactin and a normal fasting morning cortisol: 10 μg/dl (n = 5–25 μg/dl). Furthermore growth hormone (GH) stimulation test (clonidine) was abnormal with a value < 1 ng/ml (normal b 7 ng/ml), together with low IGF1 value. The bone X-ray of the hand was 1 year old (bone age). In addition, MRI brain revealed anterior pituitary hypoplasia and absent pituitary stalk with normal neurohypophysis.

Conclusions

We present the case of a pituitary stalk interruption syndrome in a 4 year child, in which case hormonal replacement therapy was started.