Publications

Authors:

Parissone, Francesca; Pucci, Mairi; Meneghelli, Emanuela; Zuffardi, Orsetta; Di Paola, Rossana; Zaffagnini, Stefano; Franchi, Massimo; Santangelo, Elisabetta; Cantalupo, Gaetano; Cavarzere, Paolo; Antoniazzi, Franco; Piacentini, Giorgio; Gaudino, Rossella

Title:

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

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

Sì

Name of journal:

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY

ISSN of journal:

1687-9848

N° Volume:

2020

Number or Folder:

1

Page numbers:

1-8

Keyword:

Chromosomal rearrangement; Diminished ovarian reserve; Fertility preservation; Recombinant growth hormone (rGH) therapy; Short stature; Xq duplication syndrome

Short description of contents:

Background 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. Case presentation We present the case of a female with a novel de novo Xq partial duplication (karyotype: 46,Xder(X)(qter -> q21.31::pter -> qter) confirmed by array-CGH analysis. She presented with short stature, Nonverbal Learning Disability, developmental delay during childhood, severe scoliosis, spontaneous onset of menarche and irregular menstrual cycles. AMH (Anti-Mullerian Hormone) allowed detection of a preserved but severely diminished ovarian reserve with a POI (Premature Ovarian insufficiency) onset risk. She was effectively subjected to fertility preservation strategies and rGH therapy. We also reviewed other published cases with Xq duplication, reporting the main clinics characteristics and any adopted treatment. Conclusions rGH treatment and cryopreservation in a multidisciplinary approach are good therapeutic strategies for Xq duplication syndrome with short stature and premature ovarian failure.

Web page:

https://ijpeonline.biomedcentral.com/track/pdf/10.1186/s13633-019-0071-z

Product ID:

113680

Handle IRIS:

11562/1014538

Last Modified:

November 14, 2022

Bibliographic citation:

Parissone, Francesca; Pucci, Mairi; Meneghelli, Emanuela; Zuffardi, Orsetta; Di Paola, Rossana; Zaffagnini, Stefano; Franchi, Massimo; Santangelo, Elisabetta; Cantalupo, Gaetano; Cavarzere, Paolo; Antoniazzi, Franco; Piacentini, Giorgio; Gaudino, Rossella, 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 «INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY» , vol. 2020 , n. 1 , 2020 , pp. 1-8

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