Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not yet identified, several data suggest that POI has a strong genetic component. Conventional cytogenetic and molecular analyses have identified regions of the X chromosome that are associated with ovarian function, as well as POI candidate genes, such as FMR1 and DIAPH2. Here we describe a 10.5-year-old girl presenting with high FSH and luteinizing hormone (LH) levels, pathologic GH stimulation arginine and clonidine tests, short stature, pterygium, ovarian dysgenesis, hirsutism and POI.

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation / Genesio, Rita; Mormile, Angela; Licenziati, Maria Rosaria; De Brasi, Daniele; Leone, Graziella; Balzano, Sara; Izzo, Antonella; Bonfiglio, Ferdinando; Conti, Anna; Fioretti, Gennaro; Lenta, Selvaggia; Poggiano, Maria Rita; Siani, Paolo; Nitsch, Lucio. - In: MOLECULAR CYTOGENETICS. - ISSN 1755-8166. - 8:1(2015), pp. 50-57. [10.1186/s13039-015-0154-3]

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

Genesio, Rita;Mormile, Angela;De Brasi, Daniele;Izzo, Antonella;Bonfiglio, Ferdinando;Conti, Anna;Lenta, Selvaggia;Poggiano, Maria Rita;Nitsch, Lucio
2015

Abstract

Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not yet identified, several data suggest that POI has a strong genetic component. Conventional cytogenetic and molecular analyses have identified regions of the X chromosome that are associated with ovarian function, as well as POI candidate genes, such as FMR1 and DIAPH2. Here we describe a 10.5-year-old girl presenting with high FSH and luteinizing hormone (LH) levels, pathologic GH stimulation arginine and clonidine tests, short stature, pterygium, ovarian dysgenesis, hirsutism and POI.
2015
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation / Genesio, Rita; Mormile, Angela; Licenziati, Maria Rosaria; De Brasi, Daniele; Leone, Graziella; Balzano, Sara; Izzo, Antonella; Bonfiglio, Ferdinando; Conti, Anna; Fioretti, Gennaro; Lenta, Selvaggia; Poggiano, Maria Rita; Siani, Paolo; Nitsch, Lucio. - In: MOLECULAR CYTOGENETICS. - ISSN 1755-8166. - 8:1(2015), pp. 50-57. [10.1186/s13039-015-0154-3]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/613590
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