Variant pubertal development in Prader-Willi syndrome: early and slow progression of pubarche with normal age at gonadarche

Variant pubertal development in Prader-Willi syndrome: early and slow progression of pubarche with normal age at gonadarche

IntroductionPrader-Willi syndrome (PWS) is primarily caused by a paternal microdeletion of the 15q11-q13 region, maternal uniparental disomy (mUPD) or unbalanced translocations. The MKRN3 gene, located within 15q11-q13, is a master regulator of pubertal initiation. We aimed to compare variant pubert...

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Main Authors: Aneta Kodytková, Petra Dušátková, Shenali Anne Amaratunga, Stanislava Koloušková, Barbora Obermannová, Renata Pomahačová, Štěpánka Průhová, Marta Šnajderová, Zdeněk Šumník, Jiřina Zapletalová, Valerij Semjonov, Jan Lebl
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Endocrinology
Subjects:
Prader-Willi syndrome puberty
pubarche
gonadarche
MKRN3 gene
puberty
bone age
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1527140/full
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