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
Autor: | Rossella Gaudino, Giorgio Piacentini, Franco Antoniazzi, Stefano Zaffagnini, Massimo Franchi, Gaetano Cantalupo, Francesca Parissone, Emanuela Meneghelli, Rossana Di Paola, Paolo Cavarzere, Elisabetta Santangelo, Orsetta Zuffardi, Mairi Pucci |
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Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
Pediatrics
medicine.medical_specialty endocrine system Case Report Premature ovarian insufficiency Short stature lcsh:Diseases of the endocrine glands. Clinical endocrinology Gene duplication medicine Chromosomal rearrangement Fertility preservation Diminished ovarian reserve Recombinant growth hormone (rGH) therapy Xq duplication syndrome lcsh:RC648-665 business.industry lcsh:RJ1-570 lcsh:Pediatrics medicine.disease Premature ovarian failure Growth hormone treatment Menarche medicine.symptom business Hormone |
Zdroj: | International Journal of Pediatric Endocrinology International Journal of Pediatric Endocrinology, Vol 2020, Iss 1, Pp 1-8 (2020) |
ISSN: | 1687-9856 1687-9848 |
Popis: | 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-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. Conclusions rGH treatment and cryopreservation in a multidisciplinary approach are good therapeutic strategies for Xq duplication syndrome with short stature and premature ovarian failure. |
Databáze: | OpenAIRE |
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