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Article

Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.

Hormone research in paediatrics - 1 Jan 2024

Juriaans Alicia F, Kerkhof Gerthe F, Garrelfs Mark, Trueba-Timmermans Demi, Hokken-Koelega Anita C S

Abstract excerpt

INTRODUCTION: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MAGEL2 gene, located in the Prader-Willi syndrome (PWS) region. PWS and SYS have phenotypic overlap. Patients with SYS are often treated with growth hormone (GH), but evidence for the effectiveness of the treatment in patients with SYS is limited. METHODS: This study describes 7 children with SYS....

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PMID: 37343528
DOI: 10.1159/000531629

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