Endocrine Abstracts

Introduction: PSIS is a rare congenital abnormality characterised by a triad of thin or interrupted pituitary stalk, small or absent anterior pituitary, and an absent or ectopic posterior pituitary gland. Incidence is around 0.5/100 000 births. Clinical presentation varies according to age. We herein describe two cases of PSIS diagnosed in the early infantile period.

Case 1: A term female neonate born by emergency section with a birth weight of 2.8 kg was admitted to the neonatal unit at 4 hours of life with floppiness and up rolling of eyes. At admission she was hypoglycaemic, hypotensive, and hypothermic. She was initially treated as suspected sepsis. Blood sugars stabilised by day 7, however the baby required incubator support till day 24 of life. Endocrine investigations showed multiple anterior pituitary hormone deficiencies (low TSH, FT4, cortisol, IGF-1, IGFBP-3 and undetectable gonadotropins. MRI showed typical features of PSIS. Her genetic analysis showed LHX3 gene mutation. She is currently 7.5 years old receiving thyroxine, hydrocortisone and GH replacement and growing at a rate of 5.9 cm/year with height on 82nd centile. She also has right sided Auditory neuropathy spectrum disorder.

Case 2: An 8-week-old male infant presented to the ED with cough, difficulty in breathing and reduced oral intake. He was born at term and the neonatal course was uneventful. He was hypothermic, jaundiced, and lethargic on arrival. He was SARS CoV-2 positive, pancytopenic with deranged clotting function on the initial investigations. Hypoglycaemia evolved on rewarming, and he required 6 glucose boluses and a maximum GIR of 8.4 mg/kg per min and IV hydrocortisone. He required bair hugger support intermittently to maintain his temperature in the first week of his presentation. His endocrine investigations confirmed multiple anterior pituitary hormone deficiency (low FT4, ACTH, Cortisol, FSH, LH, IGF-1). MRI brain showed features of PSIS. He improved clinically after starting thyroxine and hydrocortisone. He is currently 4 months old, under follow-up

Conclusion: PSIS diagnosed in the neonatal period has a particularly severe hormonal and radiological phenotype which is true from both of our cases. Early diagnosis and timely treatment can prevent long-term effects on growth and development.