Endocrine Abstracts

Introduction: Adrenal insufficiency (AI) in neonates is rare but potentially life-threatening. Early diagnosis is challenging due to nonspecific presentations. We describe two neonates who presented within one month with hypothermia and were diagnosed with AI, highlighting variable presentations, extensive work-up, and the need for early endocrine consideration.

Case 1: A male infant, born at 34+2 weeks via emergency Caesarean for suspicious CTG, had an uneventful early course. On day 7, he presented with hypothermia (32.5°C), lethargy, and apnoeas. Sepsis was suspected; CRP, blood and CSF cultures, glucose, and electrolytes were normal. At day 14, he re-presented with hypothermia (33.7°C); cortisol was low (74 nmol/l), and a short synacthen test (SST) showed inadequate response, confirming AI. MRI brain showed an absent posterior pituitary bright spot but no structural abnormality; MRI adrenal glands were normal. He improved with steroids. At 6 weeks, he presented with vomiting and hypertension, initially attributed to steroids, but was diagnosed with pyloric stenosis requiring surgery. On follow-up for persistent hypertension, repeat SST was normal; steroids were discontinued, suggesting transient secondary AI, likely due to hypothalamic–pituitary axis immaturity.

Case 2: A female infant born at 35+5 weeks had antenatal concerns of macrocephaly and short long-bones. She was treated postnatally for jaundice and suspected omphalitis (cultures negative), then discharged on oral antibiotics. At 2 weeks, she presented with hypothermia (29.9°C), bilious vomiting, constipation, apnoea, and bradycardia requiring resuscitation. Blood glucose was 2.6 mmol/l; CRP was <1, cultures (negative). CT suggested white matter changes; MRI showed poor gyri development and bilateral conatal periventricular cysts. Adrenal ultrasound revealed hypoplastic adrenal glands. She failed SST. An extensive endocrine, metabolic, and genetic work-up (including Zellweger screen) was negative. She improved with steroid therapy and remains under endocrine follow-up.

Conclusion: These cases show various presentations of neonatal AI, from recurrent hypothermia to acute collapse, initially mimicking sepsis. Case 1 highlights transient secondary AI, with resolution by 3 months; Case 2 demonstrates primary AI with adrenal and CNS involvement. Persistent hypothermia without infection should prompt endocrine investigation. Early input and follow-up are key to diagnosis and management.