Frontiers in Endocrinology (Apr 2024)
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
- Simona F. Madeo,
- Luca Zagaroli,
- Sara Vandelli,
- Valeria Calcaterra,
- Valeria Calcaterra,
- Antonino Crinò,
- Luisa De Sanctis,
- Maria Felicia Faienza,
- Danilo Fintini,
- Laura Guazzarotti,
- Maria Rosaria Licenziati,
- Enza Mozzillo,
- Roberta Pajno,
- Emanuela Scarano,
- Maria E. Street,
- Maria E. Street,
- Malgorzata Wasniewska,
- Malgorzata Wasniewska,
- Sarah Bocchini,
- Carmen Bucolo,
- Raffaele Buganza,
- Mariangela Chiarito,
- Domenico Corica,
- Domenico Corica,
- Francesca Di Candia,
- Roberta Francavilla,
- Nadia Fratangeli,
- Nicola Improda,
- Letteria A. Morabito,
- Chiara Mozzato,
- Virginia Rossi,
- Concetta Schiavariello,
- Giovanni Farello,
- Lorenzo Iughetti,
- Vincenzo Salpietro,
- Alessandro Salvatoni,
- Mara Giordano,
- Mara Giordano,
- Graziano Grugni,
- Maurizio Delvecchio
Affiliations
- Simona F. Madeo
- Department of Medical and Surgical Sciences for Mother, Children and Adults, Pediatric Unit, University of Modena and Reggio Emilia, Modena, Italy
- Luca Zagaroli
- Department of Pediatrics, University of L’Aquila, L’Aquila, Italy
- Sara Vandelli
- Department of Medical and Surgical Sciences for Mother, Children and Adults, Post-Graduate School of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy
- Valeria Calcaterra
- Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy
- Valeria Calcaterra
- Pediatric Department, Buzzi Children’s Hospital, Milano, Italy
- Antonino Crinò
- Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
- Luisa De Sanctis
- Pediatric Endocrinology, Regina Margherita Children Hospital – Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy
- Maria Felicia Faienza
- Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari “Aldo Moro”, Bari, Italy
- Danilo Fintini
- Prader Willi Reference Center, Endocrinology and Diabetology Unit, Pediatric University Department, IRCCS Bambino Gesù Children Hospital, Rome, Italy
- Laura Guazzarotti
- 0Pediatric Endocrinology Unit, University Hospital of Padova, Padova, Italy
- Maria Rosaria Licenziati
- 1Neuro-endocrine Diseases and Obesity Unit, Department of Neurosciences, Santobono-Pausilipon Children’s Hospital, Naples, Italy
- Enza Mozzillo
- 2Department of Translational and Medical Science, Section of Pediatrics, University of Naples Federico II, Naples, Italy
- Roberta Pajno
- 3Pediatric Unit, IRCCS San Raffaele Institute, Milan, Italy
- Emanuela Scarano
- 4Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- Maria E. Street
- 5Department of Medicine and Surgery, University of Parma, Parma, Italy
- Maria E. Street
- 6Department of Medicine and Surgery, University Hospital of Parma, Parma, Italy
- Malgorzata Wasniewska
- 7Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy
- Malgorzata Wasniewska
- 8Pediatric Unit, Gaetano Martino University Hospital of Messina, Messina, Italy
- Sarah Bocchini
- Prader Willi Reference Center, Endocrinology and Diabetology Unit, Pediatric University Department, IRCCS Bambino Gesù Children Hospital, Rome, Italy
- Carmen Bucolo
- 3Pediatric Unit, IRCCS San Raffaele Institute, Milan, Italy
- Raffaele Buganza
- Pediatric Endocrinology, Regina Margherita Children Hospital – Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy
- Mariangela Chiarito
- Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari “Aldo Moro”, Bari, Italy
- Domenico Corica
- 7Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy
- Domenico Corica
- 8Pediatric Unit, Gaetano Martino University Hospital of Messina, Messina, Italy
- Francesca Di Candia
- 2Department of Translational and Medical Science, Section of Pediatrics, University of Naples Federico II, Naples, Italy
- Roberta Francavilla
- 5Department of Medicine and Surgery, University of Parma, Parma, Italy
- Nadia Fratangeli
- 9Division of Auxology, Istituto Auxologico Italiano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Verbania, Italy
- Nicola Improda
- 1Neuro-endocrine Diseases and Obesity Unit, Department of Neurosciences, Santobono-Pausilipon Children’s Hospital, Naples, Italy
- Letteria A. Morabito
- 8Pediatric Unit, Gaetano Martino University Hospital of Messina, Messina, Italy
- Chiara Mozzato
- 0Child and Women Health Department, University of Padova, Padova, Italy
- Virginia Rossi
- Pediatric Department, Buzzi Children’s Hospital, Milano, Italy
- Concetta Schiavariello
- 4Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
- Giovanni Farello
- 1Department of Clinical Medicine, Public Health, Life and Environmental Sciences, University of L’Aquila, L’Aquila, Italy
- Lorenzo Iughetti
- Department of Medical and Surgical Sciences for Mother, Children and Adults, Pediatric Unit, University of Modena and Reggio Emilia, Modena, Italy
- Vincenzo Salpietro
- 2Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
- Alessandro Salvatoni
- 3Pediatric Department, Insubria University, Varese, Italy
- Mara Giordano
- 4Laboratory of Genetics, Struttura Complessa a Direzione Universitaria (SCDU) Biochimica Clinica, Ospedale Maggiore della Carità, Novara, Italy
- Mara Giordano
- 5Department of Health Sciences, University of Piemonte Orientale, Novara, Italy
- Graziano Grugni
- 9Division of Auxology, Istituto Auxologico Italiano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Verbania, Italy
- Maurizio Delvecchio
- 2Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
- DOI
- https://doi.org/10.3389/fendo.2024.1382583
- Journal volume & issue
-
Vol. 15
Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.
Keywords
- Prader-Willi syndrome (PWS)
- genotype-phenotype correlation
- growth hormone (GH)
- metabolic syndrome
- hypogonadism
- bone metabolism
