Author/Authors :
D. Hidalgo-Santos Antonio نويسنده Pediatric Endocrinology Section, University and Polytechnic Hospital La Fe, Valencia, Spain , del Carmen DeMingo-Alemany Maria نويسنده Pediatric Endocrinology Section, University and Polytechnic Hospital La Fe, Valencia, Spain , Moreno-Macián Francisca نويسنده Pediatric Endocrinology Section, University and Polytechnic Hospital La Fe, Valencia, Spain , Roselló Mónica نويسنده Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain , Orellana Carmen نويسنده Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain , Martínez Francisco نويسنده Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain , Caro-Llopis Alfonso نويسنده Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain , León-Cariñena Sara نويسنده Pediatric Endocrinology Section, University and Polytechnic Hospital La Fe, Valencia, Spain , Tomás-Vila Miguel نويسنده Neuropediatric Section, University and Polytechnic Hospital La Fe, Valencia, Spain
Abstract :
[Introduction]Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). The loss of function of MAGEL2 is suggested to contribute to endocrine hypothalamic dysfunction in individuals with PWS.[Case Presentation]The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia.[Conclusions]The clinical and molecular similarities between SYS and PWS suggested the need for a thorough endocrinological follow-up to improve the prognosis and long-term quality of life for patients with SYS.
