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A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.
Besci, Özge; Firat, Sevde Nur; Özen, Samim; Çetinkaya, Semra; Akin, Leyla; Kör, Yilmaz; Pekkolay, Zafer; Özalkak, Servan; Özsu, Elif; Erdeve, Senay Savas; Poyrazoglu, Sükran; Berberoglu, Merih; Aydin, Murat; Omma, Tülay; Akinci, Baris; Demir, Korcan; Oral, Elif Arioglu.
Afiliación
  • Besci Ö; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey.
  • Firat SN; Division of Endocrinology and Metabolism, University of Health Sciences Ankara Training and Research Hospital, Ankara 06230, Turkey.
  • Özen S; Division of Pediatric Endocrinology, Faculty of Medicine, Ege University, Izmir 35100, Turkey.
  • Çetinkaya S; Division of Pediatric Endocrinology, Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center, Ankara 06010, Turkey.
  • Akin L; Division of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun 55030, Turkey.
  • Kör Y; Division of Pediatric Endocrinology, Ministry of Health, Adana Public Hospitals Association, Adana City Hospital, Adana 01040, Turkey.
  • Pekkolay Z; Division of Endocrinology and Metabolism, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
  • Özalkak S; Division Pediatric Endocrinology, Diyarbakir Gazi Yasargil Training and Research Hospital, Diyarbakir 21070, Turkey.
  • Özsu E; Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara 06100, Turkey.
  • Erdeve SS; Division of Pediatric Endocrinology, Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center, Ankara 06010, Turkey.
  • Poyrazoglu S; Department of Pediatric Endocrinology, Istanbul University Istanbul Faculty of Medicine, Istanbul 34098, Turkey.
  • Berberoglu M; Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara 06100, Turkey.
  • Aydin M; Division of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun 55030, Turkey.
  • Omma T; Division of Endocrinology and Metabolism, University of Health Sciences Ankara Training and Research Hospital, Ankara 06230, Turkey.
  • Akinci B; Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Demir K; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey.
  • Oral EA; Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48105, USA.
J Clin Endocrinol Metab ; 108(9): 2371-2388, 2023 08 18.
Article en En | MEDLINE | ID: mdl-36825860
CONTEXT: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. OBJECTIVE: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. METHODS: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported. A systematic literature review was conducted in July 2022. Forty-two of 47 studies on LEP/LEPR were selected. RESULTS: Of 10 new cases, 2 novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40 + 5G > C). Eleven patients with LEP deficiency received metreleptin, 4 of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense variants (35%) in LEPR. Patients with LEP deficiency were diagnosed at a younger age [3 (9) vs 7 (13) years, P = .02] and had a higher median body mass index (BMI) SD score [3.1 (2) vs 2.8 (1) kg/m2, P = 0.02], which was more closely associated with frameshift variants (P = .02). Patients with LEP deficiency were more likely to have hyperinsulinemia (P = .02). CONCLUSION: Frameshift variants were more common in patients with LEP deficiency whereas missense variants were more common in LEPR deficiency. Patients with LEP deficiency were identified at younger ages, had higher BMI SD scores, and had higher rates of hyperinsulinemia than patients with LEPR deficiency. Eleven patients benefitted from long-term metreleptin, with 1 losing efficacy due to neutralizing antibodies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Obesidad Infantil / Hiperinsulinismo Tipo de estudio: Clinical_trials / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Obesidad Infantil / Hiperinsulinismo Tipo de estudio: Clinical_trials / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos