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 series of manuscripts is to honour the life and work of Dr Paolo Ghirri, Associate Professor of Paediatrics at the University of Pisa, Italy who died on 4 th October 2019. Paolo was the director of Neonatology at the Santa Chiara hospital in Pisa. He had also trained in Paediatric Endocrinology and undertook his PhD at the Johns Hopkins University, Baltimore, USA where he was a visiting scientist. Paolo was a shy man with a big heart, and kind manner.
Professor Antonio Boldrini, his former head of department, describes how he first met Paolo in the Paediatric Clinic in Pisa in 1990, over a baby with cryptorchidism. Paolo, fresh from his American studies, was considered a leading expert in disorders of sex development (DSD).
Professor Boldrini described him as extremely helpful, kind, respectful and above all knowledgeable. These qualities were confirmed over time, enriched by an uncommon humanity and empathy. Professor Boldrini formed an immediate liking and esteem for Paolo which deepened to affection and admiration over time, and he sought to attract Paolo into a career in Neonatology. Following an interview the then Director of Neonatology, Professor Carlo Cipolloni was thrilled by Paolo, and thus began an intense ‘wooing’ which finally led to Paolo joining the staff in the department of Neonatology at Pisa University Hospital in 1993. In 2004 Paolo became head of Section of Neonatal Endocrinology and Dysmorphology and Assistant Professor of Neonatology, University of Pisa in 2011. Professor Boldrini wished to report the words from two eminent Italian Neonatal colleagues who described Paolo as “a man who asked a lot of himself for others, but little or nothing for himself, and even this little or nothing he asked politely”. We endorse these attributes and are proud of having been part of collaborative projects with Paolo Ghirri, bridging the divide between endocrinology and neonatology, of which
this series was to have been another.
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 series of manuscripts is to honour the life and work of Dr Paolo Ghirri, Associate Professor of Paediatrics at the University of Pisa, Italy who died on 4 th October 2019. Paolo was the director of Neonatology at the Santa Chiara hospital in Pisa. He had also trained in Paediatric Endocrinology and undertook his PhD at the Johns Hopkins University, Baltimore, USA where he was a visiting scientist. Paolo was a shy man with a big heart, and kind manner.
Professor Antonio Boldrini, his former head of department, describes how he first met Paolo in the Paediatric Clinic in Pisa in 1990, over a baby with cryptorchidism. Paolo, fresh from his American studies, was considered a leading expert in disorders of sex development (DSD).
Professor Boldrini described him as extremely helpful, kind, respectful and above all knowledgeable. These qualities were confirmed over time, enriched by an uncommon humanity and empathy. Professor Boldrini formed an immediate liking and esteem for Paolo which deepened to affection and admiration over time, and he sought to attract Paolo into a career in Neonatology. Following an interview the then Director of Neonatology, Professor Carlo Cipolloni was thrilled by Paolo, and thus began an intense ‘wooing’ which finally led to Paolo joining the staff in the department of Neonatology at Pisa University Hospital in 1993. In 2004 Paolo became head of Section of Neonatal Endocrinology and Dysmorphology and Assistant Professor of Neonatology, University of Pisa in 2011. Professor Boldrini wished to report the words from two eminent Italian Neonatal colleagues who described Paolo as “a man who asked a lot of himself for others, but little or nothing for himself, and even this little or nothing he asked politely”. We endorse these attributes and are proud of having been part of collaborative projects with Paolo Ghirri, bridging the divide between endocrinology and neonatology, of which
this series was to have been another.