About this Research Topic
Many endocrine conditions are unique to the perinatal period and may be life threatening or have profound long-term consequences if not diagnosed and treated promptly. Endocrine diseases can arise from many causes. Hormones can be over- or underproduced, receptors can malfunction, and normal pathways for hormone removal may be disrupted.
Endocrine diseases may be suspected because of an anomaly found on examination at birth, including dysmorphic features, disorder of sex development (DSD), cryptorchidism, large or small weight for gestational age. Endocrine disease may also be suspected if there is cardiovascular collapse, hypotension, dehydration, electrolyte abnormalities or hypoglycaemia. There may also be a family history of similarly affected family members or sudden neonatal deaths.
Numerous symptoms and signs of endocrine dysfunction (such as prolonged jaundice, poor feeding, jitteriness, irritability, hypotonia, hypertonia and convulsions) are non-specific and need to be considered in the differential diagnosis. Particularly in a preterm baby that is being monitored because of prematurity, abnormalities may be picked up on ‘routine’ blood tests. A newborn may display clinical signs of an underlying endocrinopathy that may not have been apparent either in-utero or at birth. Finally, screening tests specifically for endocrine abnormalities (hypothyroidism and congenital adrenal hyperplasia) may diagnose disease in asymptomatic babies.
A significant amount of knowledge has been gained in recent years in the study of the origins of endocrine disorders in the newborn, especially thanks to new genetic data. Diagnostic evaluation and management of these infants has improved in the last decades. The main purpose of this Research Topic in Frontiers in Pediatrics is to collect papers suitable to improve the sharing of knowledge on endocrine dysfunction of the newborn, and to develop and implement the existing and novel interventions and strategies for early recognition, diagnosis and treatment.
This Research Topic is in memory of Professor Paolo Ghirri, Associate Professor of General Pediatrics in the Department of Experimental and Clinical Medicine at the University of Pisa, and Director of Neonatology at Santa Chiara Hospital of Pisa. To honour his invaluable contribution to Neonatology, his fellow editors, Dr Paula Midgley and Dr Amanda Ogilvy-Stuart, and Frontiers in Pediatrics wish to dedicate this article collection to him.
Keywords: newborn, hypopituitarism, adrenal insufficiency, hypoglycemia, thyroid diseases
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