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de Andrade NXS, Adiyaman SC, Yuksel BD, et al. UNUSUAL PRESENTATIONS OF . AACE Clin Case Rep. 2020;6(2):e79-e85doi: 10.4158/ACCR-2019-0366.
de Andrade, N. X. S., Adiyaman, S. C., Yuksel, B. D., Ferrari, C. T., Eldin, A. J., Saydam, B. O., Altay, C., Sharma, P., Bhave, N., Little, A., McKeever, P., Onay, H., Ozkal, S., Secil, M., Yenerel, M. N., Akinci, B., & Oral, E. A. (2020). UNUSUAL PRESENTATIONS OF . AACE clinical case reports, 6(2), e79-e85. https://doi.org/10.4158/ACCR-2019-0366
de Andrade, Natalia Xavier S, et al. "UNUSUAL PRESENTATIONS OF ." AACE clinical case reports vol. 6,2 (2020): e79-e85. doi: https://doi.org/10.4158/ACCR-2019-0366
de Andrade NXS, Adiyaman SC, Yuksel BD, Ferrari CT, Eldin AJ, Saydam BO, Altay C, Sharma P, Bhave N, Little A, McKeever P, Onay H, Ozkal S, Secil M, Yenerel MN, Akinci B, Oral EA. UNUSUAL PRESENTATIONS OF . AACE Clin Case Rep. 2020 Mar 04;6(2):e79-e85. doi: 10.4158/ACCR-2019-0366. eCollection 2020. PMID: 32524016; PMCID: PMC7282159.
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AACE Clin Case Rep. 2020 Mar 04;6(2):e79-e85. doi: 10.4158/ACCR-2019-0366. eCollection 2020.

UNUSUAL PRESENTATIONS OF .

AACE clinical case reports

Natalia Xavier S de Andrade, Suleyman Cem Adiyaman, Berna Demir Yuksel, Carla T Ferrari, Abdelwahab Jalal Eldin, Basak Ozgen Saydam, Canan Altay, Pratima Sharma, Nicole Bhave, Ann Little, Paul McKeever, Huseyin Onay, Sermin Ozkal, Mustafa Secil, Mustafa Nuri Yenerel, Baris Akinci, Elif A Oral

PMID: 32524016 PMCID: PMC7282159 DOI: 10.4158/ACCR-2019-0366

Abstract

OBJECTIVE: Lipodystrophy represents a group of rare diseases characterized by loss of body fat. While patients with generalized lipodystrophy exhibit near-total lack of fat, partial lipodystrophy is associated with selective fat loss affecting certain parts of the body. Although classical familial partial lipodystrophy (FPLD) is a well-described entity, recent reports indicate phenotypic heterogeneity among carriers of

METHODS: We have encountered 2 unique cases with complex phenotypes, generalized fat loss, and very low leptin levels that made the distinction between generalized versus partial lipodystrophy quite challenging.

RESULTS: We present a 61-year-old female with generalized fat loss, harboring the heterozygous pathogenic variant p.R541P (c.1622G>C) on the

CONCLUSION: Clinicians need to recognize that the presence of an

Copyright © 2020 AACE.

Conflict of interest statement

DISCLOSURE E.A.O. and J.E.A.W. were partially supported by the Lipodystrophy Fund at the University of Michigan which is graciously funded by the Sopha Family and the White Point Foundation of Turkey.

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