Pituitary stalk interruption syndrome (PSIS) – a rare cause of short stature

M. S. A. Cooray, N. P. Somasundaram, T. Rajapakse, S. Dayaratne, H. Chandrasena
2015 Sri Lanka Journal of Diabetes Endocrinology and Metabolism  
A 16 year old girl was evaluated for short stature and delayed puberty. She was noted to be shorter than her twin sister since infancy. Her parents, twin and two other siblings had normal growth and development. Although her twin went through puberty at 12 years of age, she failed to develop any sign of puberty. There were no symptoms of hypothyroidism, adrenal insufficiency, polydipsia or polyuria. The patient was a product of non-consanguineous marriage and the first born of twins,
more » ... f twins, deliveredwith breech presentation. Although there was a history of early neonatal seizures with prolonged ICU stay and delayed developmental milestones compared to her twin, there had been no chronic medical problems later on and she Images in Endocrinology performed well at school. The social, family and peer interactions were normal with no behavioural problems. There was no history of short stature or primary amenorrhoea in the family. On examination her height and weight were less than the 3rd percentile and she was pre pubertal (Tanner stage 1). White blood count (WBC), erythrocyte sedimentation rate (ESR), urinalysis (UA), and serum electrolytes were normal. Her hormone analysis is shown in table 1. The X ray hand showed the bone age to be 6 years (Pyle and Greulich). MRI brain revealed an absent anterior pituitary, Figure 1. MRI brain (a) sagittal and (b) axial images showing an absent anterior pituitary and ectopic posterior pituitary located in the region of the hypothalamus with absent pituitary stalk.
doi:10.4038/sjdem.v5i1.7275 fatcat:4sxmzmsouzdzhmlchudffreiwq