A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing

Familial partial lipodystrophy type 2 is a rare disease, particularly when it is caused by nonclassical gene variants. A high index of suspicion is essential for a timely diagnosis. We present the case of a 32-year-old woman, referred to evaluation of a possible Cushing syndrome, which was clinically and biochemically ruled out. Yet, due to the finding of a rather abnormal fat distribution during physical examination, the diagnosis of lipodystrophy was cogitated. Whole-exome sequencing revealed a missense variant of exon 11 R582H of the gene encoding Laminin A (rs57830985,c.1745G>A, p.Arg582His). The patient presented some clinical and biochemical characteristics discordant with those previously reported in patients harboring other classical variants of this gene.

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Publication Details

Journal
Archives of Endocrinology and Metabolism
Published
2025-01-01
DOI
https://doi.org/10.20945/2359-4292-2024-0293
Primary Topic
Nuclear Structure and Function
Type
article
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article

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing

Moisés Mercado, Enid Karina Pérez-Dionisio, Ernesto Sosa, Daniel Marrero–Rodríguez et al.
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Archives of Endocrinology and Metabolism
Nuclear Structure and Function
article

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing

Moisés Mercado, Enid Karina Pérez-Dionisio, Ernesto Sosa, Daniel Marrero–Rodríguez, Manuel García-Sáenz, Jesús Hernández-Pérez, Rocío Alejandra Chávez-Santoscoy, Regina de Miguel-Ibáñez, Etual Espinosa-Cárdenas, Keiko Taniguchi‐Ponciano, Silvia Hinojosa‐Álvarez, Claudia Ramírez‐Rentería
article en

Abstract

Familial partial lipodystrophy type 2 is a rare disease, particularly when it is caused by nonclassical gene variants. A high index of suspicion is essential for a timely diagnosis. We present the case of a 32-year-old woman, referred to evaluation of a possible Cushing syndrome, which was clinically and biochemically ruled out. Yet, due to the finding of a rather abnormal fat distribution during physical examination, the diagnosis of lipodystrophy was cogitated. Whole-exome sequencing revealed a missense variant of exon 11 R582H of the gene encoding Laminin A (rs57830985,c.1745G>A, p.Arg582His). The patient presented some clinical and biochemical characteristics discordant with those previously reported in patients harboring other classical variants of this gene.

Archives of Endocrinology and MetabolismVol. 69(1)
Mexican Social Security Institute (MX), Centro Medico Nacional Siglo XXI (MX), Hospital de Especialidades (MX), Tecnológico de Monterrey (MX)
Good health and well-being
Openalex Percentile: Top 95%
Nuclear Structure and Function
DOIOpen Access PDFOpenAlex
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A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing — Moisés Mercado, Enid Karina Pérez-Dionisio, et al. · Archives of Endocrinology and Metabolism (2025) | TGRS Research Map | TGRS