Akinci B, Meral R, Oral EA. Phenotypic and genetic characteristics of lipodystrophy: pathophysiology, metabolic abnormalities, and comorbidities. Curr Diab Rep. 2018;18(12):143.

Article  PubMed  Google Scholar 

Hussain I, Garg A. Lipodystrophy syndromes. Endocrinol Metab Clin North Am. 2016;45(4):783–97.

Article  PubMed  PubMed Central  Google Scholar 

Reitman ML, Arioglu E, Gavrilova O, Taylor SI. Lipoatrophy revisited. Trends Endocrinol Metab. 2000;11(10):410–6.

Article  CAS  PubMed  Google Scholar 

Oral EA, Chan JL. Rationale for leptin-replacement therapy for severe lipodystrophy. Endocr Pract. 2010;16(2):324–33.

Article  PubMed  Google Scholar 

Akinci B, Sahinoz M, Oral E. Lipodystrophy syndromes: presentation and treatment. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, et al., editors. Endotext. South Dartmouth (MA), 2000.

Akinci B, Oral EA, Neidert A, Rus D, Cheng WY, Thompson-Leduc P, et al. Comorbidities and survival in patients with lipodystrophy: an international chart review study. J Clin Endocrinol Metab. 2019;104(11):5120–35.

Article  PubMed  PubMed Central  Google Scholar 

Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, et al. Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey. J Clin Endocrinol Metab. 2016;101(7):2759–67.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, et al. Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. PLoS ONE. 2018;13(6):e0199052.

Article  PubMed  PubMed Central  Google Scholar 

Dhankhar P, Isupov T, Araujo-Vilar D, Brown R, Garg A, Jae DH, et al. Estimating quality of life of patients with lipodystrophy. Value Health. 2015;18(3):A292 (English).

Article  Google Scholar 

Ali OA, Cook K, Shampanier KS, Tuttle E, Gerrits C, Brown R. Patient quality of life and benefits of leptin replacement therapy (LRT) in generalized and partial lipodystrophy (GL, PL). Diabetes. 2018;67. (English).

Cook K, Adamski K, Gomes A, Tuttle E, Kalden H, Cochran E, et al. Effects of metreleptin on patient outcomes and quality of life in generalized and partial lipodystrophy. J Endocr Soc. 2021;5(4):bvab019.

Article  PubMed  PubMed Central  Google Scholar 

Simsir IY, Yurekli BS, Polat I, Saygili F, Akinci B. Metreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy. Natl Med J India. 2020;33(5):278–80 (English).

Article  PubMed  Google Scholar 

Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500–11.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Adams C, Stears A, Savage D, Deaton C. “We’re stuck with what we’ve got”: the impact of lipodystrophy on body image. J Clin Nurs. 2018;27(9–10):1958–68.

Article  PubMed  Google Scholar 

Jalal Eldin A, Akinci B, Meral R, Rus D, Swaidan M, Hench R, et al. MON-101 the LD lync study: natural history study of lipodystrophy syndromes—early lessons from the pilot data. J Endocr Soc. 2019;3(Supplement_1).

Vieira DB, Antel J, Peters T, Miehle K, Stumvoll M, Hebebrand J, et al. Suggestive evidence for an antidepressant effect of metreleptin treatment in patients with lipodystrophy. Obes Facts. 2022;15(5):685–93.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chou SH, Mantzoros C. 20 years of leptin: role of leptin in human reproductive disorders. J Endocrinol. 2014;223(1):T49-62.

Article  CAS  PubMed  Google Scholar 

Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, et al. Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort. Clin Endocrinol. 2017;86(5):698–707.

Article  CAS  Google Scholar 

Martin SA, Sanchez RJ, Olayinka-Amao O, Harris C, Fehnel S. Qualitative interviews in patients with lipodystrophy to assess the patient experience: evaluation of hunger and other symptoms. J Patient Rep Outcomes. 2022;6(1):84.

Article  PubMed  PubMed Central  Google Scholar 

Kaufman J, Birmaher B, Brent D, Rao U, Flynn C, Moreci P, et al. Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (K-SADS-PL): initial reliability and validity data. J Am Acad Child Adolesc Psychiatry. 1997;36(7):980–8.

Article  CAS  PubMed  Google Scholar 

von Glischinski M, von Brachel R, Hirschfeld G. How depressed is “depressed”? A systematic review and diagnostic meta-analysis of optimal cut points for the beck depression inventory revised (BDI-II). Qual Life Res. 2019;28(5):1111–8.

Article  Google Scholar 

Hawthorne G, Osborne RH, Taylor A, Sansoni J. The SF36 version 2: critical analyses of population weights, scoring algorithms and population norms. Qual Life Res. 2007;16(4):661–73.

Article  PubMed  Google Scholar 

Devlin N, Pickard S, Busschbach J. The development of the EQ-5D-5L and its value sets. In: Devlin N, Roudijk B, Ludwig K, editors. Value sets for EQ-5D-5L: a compendium, comparative review & user guide. Cham; 2022. pp. 1–12.

Zhang W, Bansback N, Boonen A, Young A, Singh A, Anis AH. Validity of the work productivity and activity impairment questionnaire–general health version in patients with rheumatoid arthritis. Arthritis Res Ther. 2010;12(5):R177.

Article  PubMed  PubMed Central  Google Scholar 

Licenziati MR, Bacchini D, Crino A, Grugni G, Fintini D, Osimani S, et al. The hyperphagia questionnaire: insights from a multicentric validation study in individuals with Prader Willi syndrome. Front Pediatr. 2022;10:829486.

Article  PubMed  PubMed Central  Google Scholar 

Harris DL, Carr AT. The derriford appearance scale (DAS59): a new psychometric scale for the evaluation of patients with disfigurements and aesthetic problems of appearance. Br J Plast Surg. 2001;54(3):216–22.

Article  CAS  PubMed  Google Scholar 

Montan I, Lowe B, Cella D, Mehnert A, Hinz A. General population norms for the functional assessment of chronic illness therapy (FACIT)-fatigue scale. Value Health. 2018;21(11):1313–21.

Article  PubMed  Google Scholar 

Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care. 1999;37(2):126–39.

Article  CAS  PubMed  Google Scholar 

Smucker MR, Craighead WE, Craighead LW, Green BJ. Normative and reliability data for the Children’s depression inventory. J Abnorm Child Psychol. 1986;14(1):25–39.

Article  CAS  PubMed  Google Scholar 

Dykens EM, Maxwell MA, Pantino E, Kossler R, Roof E. Assessment of hyperphagia in Prader-Willi syndrome. Obesity. 2007;15(7):1816–26.

Article  PubMed  Google Scholar 

Demiral Y, Ergor G, Unal B, Semin S, Akvardar Y, Kivircik B, et al. Normative data and discriminative properties of short form 36 (SF-36) in Turkish urban population. BMC Public Health. 2006;9(6):247.

Article  Google Scholar 

Blundell JE, Goodson S, Halford JC. Regulation of appetite: role of leptin in signalling systems for drive and satiety. Int J Obes Relat Metab Disord. 2001;25(Suppl 1):S29-34.

Article  CAS  PubMed  Google Scholar 

Gomes A, Cook K, Wong A, Tuttle E, Stratton A, Sanders R. Experiences and perspectives of patients with non-HIV-associated lipodystrophies and their caregivers: a qualitative study. Patient. 2021;14(5):673–85.

Article  PubMed  PubMed Central  Google Scholar 

Farooqi IS, O’Rahilly S. Leptin: a pivotal regulator of human energy homeostasis. Am J Clin Nutr. 2009;89(3):980S-S984.

Article  CAS  PubMed  Google Scholar 

Lustman PJ, Anderson RJ, Freedland KE, de Groot M, Carney RM, Clouse RE. Depression and poor glycemic control: a meta-analytic review of the literature. Diabetes Care. 2000;23(7):934–42.

Article  CAS  PubMed  Google Scholar 

Lawson EA, Miller KK, Blum JI, Meenaghan E, Misra M, Eddy KT, et al. Leptin levels are associated with decreased depressive symptoms in women across the weight spectrum, independent of body fat. Clin Endocrinol. 2012;76(4):520–5.

Article  CAS  Google Scholar