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: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Brazilian Society of Endocrinology and Metabolism
2025-03-01
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| 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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| Summary: | 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 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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| ISSN: | 2359-4292 |