Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by telangiectasias and visceral arteriovenous malformations (AVMs), which can result in epistaxis and bleeding involving the lungs, brain, liver, and gastrointestinal tract. Adrenal crisis is a rare, life-threatening endocrine emergency characterized by hypotension, hypoglycemia, hyponatremia, and hyperkalemia. To date, adrenal insufficiency or adrenal crisis has not been reported in association with HHT. I present a novel case of a neonate with severe adrenal crisis subsequently found to have a pathogenic HHT-associated genetic variant. Case Presentation A 2-month-old female with no prior medical history presented to the emergency department with lethargy, vomiting, poor feeding, and weight loss. Initial laboratory evaluation revealed severe hyponatremia (Na 112 mmol/L) and hyperkalemia (K 10.3 mmol/L), prompting admission to the PICU. Repeat testing confirmed persistent electrolyte abnormalities. Urinalysis was concerning for urinary tract infection. The patient was treated emergently with aggressive intravenous fluid resuscitation and high-dose intravenous hydrocortisone, resulting in rapid improvement in sodium, potassium, and acid–base status. Pediatric endocrinology was consulted for suspected adrenal insufficiency. Recommendations included continuation of stress-dose hydrocortisone, initiation of fludrocortisone, and sodium supplementation.. Electrolytes normalized within 24 hours. Newborn screening was reportedly normal, including absence of elevated 17-hydroxyprogesterone. Physical examination demonstrated normal external female genitalia without hyperpigmentation or virilization. Abdominal ultrasound demonstrated the presence of a uterus. Karyotype analysis revealed 46,XX. Urine cultures grew Pseudomonas aeruginosa. Pediatric infectious disease and urology were consulted. Renal ultrasound revealed right urinary tract dilation and debris within the left renal collecting system, consistent with urinary tract infection. Given that stress-dose steroids were initiated prior to obtaining adrenal function testing, genetics was consulted for further evaluation. Whole-genome sequencing identified a pathogenic variant in ENG, consistent with a diagnosis of HHT. Conclusion This case describes a neonate with life-threatening adrenal crisis in whom a pathogenic ENG mutation associated with HHT was identified. While a causal relationship cannot yet be established, this report raises the possibility of adrenal involvement or vulnerability in HHT and expands the phenotypic spectrum of this condition. Further investigation is warranted to determine whether adrenal dysfunction represents a rare but clinically significant manifestation of HHT in neonates.
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