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

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

doi:10.1186/s13633-019-0071-z

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 presentationWe 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.

Highlights

Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X
While males with dup (Xq) usually present short stature, mental retardation, feeding problems, microcephaly, facial dysmorphism, hypotonia, and hypoplastic genitalia, females with dup (Xq) may show some phenotypic abnormalities that could include short stature, developmental delay, facial dysmorphism, and gonadal dysgenesis [1, 7]. This condition could be defined as Xq Duplication Syndrome [7]
We reviewed other female Xq duplication cases reported in literature in the last 35 years, highlighting the main clinical features and treatments adopted

Summary

Introduction

Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. 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. While males with dup (Xq) usually present short stature, mental retardation, feeding problems, microcephaly, facial dysmorphism, hypotonia, and hypoplastic genitalia, females with dup (Xq) may show some phenotypic abnormalities that could include short stature, developmental delay, facial dysmorphism, and gonadal dysgenesis [1, 7]. This condition could be defined as Xq Duplication Syndrome [7]. Males are more likely to be severely affected by this syndrome than females bearing the same duplication, since the duplicated X chromosome is usually inactivated [1, 5]

Objectives

Conclusion