What is it about?

We examined imprinting defects in patients with idiopathic short stature. Imprinting disorders lead to short growth failure, mainly SGA-short stature. To our knowledge, there is no study focusing to idiopathic short stature.

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Why is it important?

This is the largest study which examined imprinting defects in patients with idiopathic short stature.

Perspectives

Because previous studies did not obtain the information about their birth length, birth weight, and present stature from all patients, these studies could not show the correlation between imprintig disorders and  idiopathic short stature. Our study showed that it is unlikely that cases clinically diagnosed with  idiopathic short stature are caused by imprinting disorders leading to growth failure.

Masayo Kagami

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This page is a summary of: Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature, Journal of Pediatric Endocrinology and Metabolism, August 2020, De Gruyter,
DOI: 10.1515/jpem-2020-0198.
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