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Abstract

Babies with hormonal imbalances exhibit characteristic dysmorphic symptoms and suffer from neuropsychiatric, cardiovascular, gastrointestinal, eye problems, deafness, endocrine disorders, blood disorders, and many other health problems. It’s easy. Maybe so. We present a case of a newborn with Down syndrome. The baby was a full-term woman who delivered by caesarean section. She was diagnosed with a complex congenital malformation before she was born. By the 10th day of life, she began experiencing dyspnea, persistent respiratory acidosis, and persistent severe hyponatremia, requiring intubation and mechanical ventilation. Her condition was deteriorating rapidly, so our team decided to test her for metabolic disorders. Screening was positive for heterozygous Duarte-mutated galactosemia.Further tests were performed for metabolic and endocrine problems that may be related to hormonal imbalance, leading to the diagnosis of hypoaldosteronism and hypothyroidism. This case was a challenge for our team as the infant also exhibited multiple metabolic and hormonal deficiencies. In addition to congenital heart defects, neonates with hormonal imbalances may suffer from metabolic and hormonal deficiencies that can adversely affect prognosis in the short and long term. Therefore, interdisciplinary teams are often required.