The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions
IntroductionLipodystrophy syndromes comprise a group of rare endocrine disorders characterized by the generalized or partial loss of adipose tissue. Affected individuals frequently display absolute or relative reductions in leptin, a key adipokine regulator of hunger-satiety signaling, and are predi...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1597053/full |
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| author | Rebecca J. Brown Baris Akinci Saif Al Yaarubi Elise Bismuth Marco Cappa Asma Deeb Clemens Kamrath Carla Musso Nivedita Patni Flavia Prodam Rachel Williams Rachel Williams Martin Wabitsch |
| author_facet | Rebecca J. Brown Baris Akinci Saif Al Yaarubi Elise Bismuth Marco Cappa Asma Deeb Clemens Kamrath Carla Musso Nivedita Patni Flavia Prodam Rachel Williams Rachel Williams Martin Wabitsch |
| author_sort | Rebecca J. Brown |
| collection | DOAJ |
| description | IntroductionLipodystrophy syndromes comprise a group of rare endocrine disorders characterized by the generalized or partial loss of adipose tissue. Affected individuals frequently display absolute or relative reductions in leptin, a key adipokine regulator of hunger-satiety signaling, and are predisposed to a range of metabolic and end-organ complications, often from a young age. The presentation and severity of lipodystrophy syndromes is largely dependent on the extent of adipose tissue loss while comorbidities often deteriorate with age. In this regard, optimizing care for children and adolescents with lipodystrophy syndromes is a pivotal step in supporting them into adulthood. To assist clinicians with limited experience of managing young patients with lipodystrophy syndromes, we describe our clinical approach to a series of pediatric patients with these rare diseases.MethodsThe clinical history, diagnosis, disease management and follow-up care of 10 international pediatric patients with lipodystrophy syndromes are presented. Teaching points from each case study are also provided. Most of these cases are based on patients from our clinics with certain details changed to protect privacy. Others represent hypothetical scenarios based on our clinical experience supported by review of the medical literature and are included here for educational purposes.ResultsOur patients illustrate the broad phenotypic spectrum of lipodystrophy syndromes that can manifest early in life. We highlight the importance of timely and accurate diagnosis in guiding early disease management strategies to help reduce the risk of comorbidities. The challenges faced by clinicians managing pediatric patients with lipodystrophy syndromes and how these challenges may differ from adult patients are also explored.DiscussionThe cases presented in this manuscript may assist clinical teams to promptly diagnose and holistically manage young patients with lipodystrophy syndromes and help optimize clinical outcomes as they transition to adult care. |
| format | Article |
| id | doaj-art-4eb6be9fe15f443cbb43680cbcf9c575 |
| institution | DOAJ |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-4eb6be9fe15f443cbb43680cbcf9c5752025-08-20T02:57:21ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-08-011610.3389/fendo.2025.15970531597053The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussionsRebecca J. Brown0Baris Akinci1Saif Al Yaarubi2Elise Bismuth3Marco Cappa4Asma Deeb5Clemens Kamrath6Carla Musso7Nivedita Patni8Flavia Prodam9Rachel Williams10Rachel Williams11Martin Wabitsch12National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United StatesDepartment of Technological Research, Izmir Biomedicine and Genome Center, Dokuz Eylül University, Izmir, TürkiyeOman Medical Specialty Board, Muscat, OmanDepartment of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris, FranceResearch Unit for Innovative Therapies in Endocrinopathies, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, ItalyDivision of Paediatric Endocrine, Sheikh Shakhbout Medical City and College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab EmiratesCentre of Child and Adolescent Medicine, Department of General Pediatrics and Neonatology, University Hospital Freiburg, Freiburg, GermanyHospital Universitario Fundación Favaloro, Ciudad Autónoma de Buenos Aires, ArgentinaDivision of Pediatric Endocrinology, Department of Pediatrics, University of Texas (UT) Southwestern Medical Center, Dallas, TX, United States0Unit of Endocrinology, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy1Cambridge University Hospitals, National Health Service (NHS) Foundation Trust, Cambridge, United Kingdom2Nottingham Children’s Hospital, Nottingham, United Kingdom3German Center for Child and Adolescent Health (DZKJ), Ulm Site, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, GermanyIntroductionLipodystrophy syndromes comprise a group of rare endocrine disorders characterized by the generalized or partial loss of adipose tissue. Affected individuals frequently display absolute or relative reductions in leptin, a key adipokine regulator of hunger-satiety signaling, and are predisposed to a range of metabolic and end-organ complications, often from a young age. The presentation and severity of lipodystrophy syndromes is largely dependent on the extent of adipose tissue loss while comorbidities often deteriorate with age. In this regard, optimizing care for children and adolescents with lipodystrophy syndromes is a pivotal step in supporting them into adulthood. To assist clinicians with limited experience of managing young patients with lipodystrophy syndromes, we describe our clinical approach to a series of pediatric patients with these rare diseases.MethodsThe clinical history, diagnosis, disease management and follow-up care of 10 international pediatric patients with lipodystrophy syndromes are presented. Teaching points from each case study are also provided. Most of these cases are based on patients from our clinics with certain details changed to protect privacy. Others represent hypothetical scenarios based on our clinical experience supported by review of the medical literature and are included here for educational purposes.ResultsOur patients illustrate the broad phenotypic spectrum of lipodystrophy syndromes that can manifest early in life. We highlight the importance of timely and accurate diagnosis in guiding early disease management strategies to help reduce the risk of comorbidities. The challenges faced by clinicians managing pediatric patients with lipodystrophy syndromes and how these challenges may differ from adult patients are also explored.DiscussionThe cases presented in this manuscript may assist clinical teams to promptly diagnose and holistically manage young patients with lipodystrophy syndromes and help optimize clinical outcomes as they transition to adult care.https://www.frontiersin.org/articles/10.3389/fendo.2025.1597053/fullacquired generalized lipodystrophyacquired partial lipodystrophycomorbiditiescongenital generalized lipodystrophyfamilial partial lipodystrophypediatric |
| spellingShingle | Rebecca J. Brown Baris Akinci Saif Al Yaarubi Elise Bismuth Marco Cappa Asma Deeb Clemens Kamrath Carla Musso Nivedita Patni Flavia Prodam Rachel Williams Rachel Williams Martin Wabitsch The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions Frontiers in Endocrinology acquired generalized lipodystrophy acquired partial lipodystrophy comorbidities congenital generalized lipodystrophy familial partial lipodystrophy pediatric |
| title | The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions |
| title_full | The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions |
| title_fullStr | The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions |
| title_full_unstemmed | The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions |
| title_short | The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions |
| title_sort | clinical approach to child and adolescent patients with lipodystrophy a series of international case discussions |
| topic | acquired generalized lipodystrophy acquired partial lipodystrophy comorbidities congenital generalized lipodystrophy familial partial lipodystrophy pediatric |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1597053/full |
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