A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.
Francesca ParissoneMairi PucciEmanuela MeneghelliOrsetta ZuffardiRossana Di PaolaStefano ZaffagniniMassimo FranchiElisabetta SantangeloGaetano CantalupoPaolo CavarzereFranco AntoniazziGiorgio PiacentiniRossella GaudinoPublished in: International journal of pediatric endocrinology (2020)
rGH treatment and cryopreservation in a multidisciplinary approach are good therapeutic strategies for Xq duplication syndrome with short stature and premature ovarian failure.