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

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

SUMMARY 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 c...

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Main Authors: Enid Perez-Dionisio, Silvia Hinojosa-Alvarez, Rocio Alejandra Chavez-Santoscoy, Regina de Miguel-Ibañez, Manuel Garcia-Saenz, Daniel Marrero-Rodriguez, Keiko Taniguchi-Ponciano, Jesus Henandez-Perez, Moises Mercado, Claudia Ramirez-Renteria, Ernesto Sosa-Eroza, Etual Espinosa-Cardenas
Format: Article
Language:English
Published: Brazilian Society of Endocrinology and Metabolism 2025-03-01
Series:Archives of Endocrinology and Metabolism
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000100902&lng=en&tlng=en
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