Evidence map›Paper›PMID 31938033›Full record

ArticleInternational journal of pediatric endocrinology2020

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 Parissone, Mairi Pucci, Emanuela Meneghelli, Orsetta Zuffardi, Rossana Di Paola, Stefano Zaffagnini, Massimo Franchi, Elisabetta Santangelo, Gaetano Cantalupo, Paolo Cavarzere and 3 more

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of pediatric endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 2 institutions in 1 country.

Francesca Parissone *1Department of Obstetrics and Gynaecology, AOUI Verona, Verona, Italy.
Mairi Pucci *2Department of Neurological, Biomedical and Movement Sciences, Clinical Biochemistry section, University of Verona, P.le L. A Scuro, 10, 37134 Verona, Italy.ORCID 0000-0001-7550-4893
Emanuela Meneghelli2Department of Neurological, Biomedical and Movement Sciences, Clinical Biochemistry section, University of Verona, P.le L. A Scuro, 10, 37134 Verona, Italy.
Orsetta Zuffardi3Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Rossana Di Paola1Department of Obstetrics and Gynaecology, AOUI Verona, Verona, Italy.
Stefano Zaffagnini1Department of Obstetrics and Gynaecology, AOUI Verona, Verona, Italy.
Massimo Franchi4Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Obstetrics and Gynaecology, University of Verona, Verona, Italy.
Elisabetta Santangelo5Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Child Neuropsychiatry, University of Verona, Verona, Italy.
Gaetano Cantalupo5Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Child Neuropsychiatry, University of Verona, Verona, Italy.
Paolo Cavarzere6Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Paediatrics, University of Verona, Verona, Italy.
Franco Antoniazzi6Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Paediatrics, University of Verona, Verona, Italy.
Giorgio Piacentini6Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Paediatrics, University of Verona, Verona, Italy.
Rossella Gaudino6Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Paediatrics, University of Verona, Verona, Italy.
University of Verona · ITUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundXq 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-Müllerian 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.

conclusionsrGH treatment and cryopreservation in a multidisciplinary approach are good therapeutic strategies for Xq duplication syndrome with short stature and premature ovarian failure.

Indexed as

Chromosomal rearrangementDiminished ovarian reserveFertility preservationRecombinant growth hormone (rGH) therapyShort statureXq duplication syndrome

Identifiers

PMID31938033
PMCPMC6953468
OpenAlexW3000497572

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.