TY - JOUR AU - Parissone, Francesca AU - Pucci, Mairi AU - Meneghelli, Emanuela AU - Zuffardi, Orsetta AU - Di Paola, Rossana AU - Zaffagnini, Stefano AU - Franchi, Massimo AU - Santangelo, Elisabetta AU - Cantalupo, Gaetano AU - Cavarzere, Paolo AU - Antoniazzi, Franco AU - Piacentini, Giorgio AU - Gaudino, Rossella PY - 2020 DA - 2020/01/09 TI - 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 JO - International Journal of Pediatric Endocrinology SP - 1 VL - 2020 IS - 1 AB - Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. Sometimes short stature and diminished ovarian reserve (DOR) may be present. Treatments with rGH (Recombinant growth Hormon) or with fertility preservation strategies have not been previously described. SN - 1687-9856 UR - https://doi.org/10.1186/s13633-019-0071-z DO - 10.1186/s13633-019-0071-z ID - Parissone2020 ER -