Turner Syndrome

Abstract

Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article reviews the major clinical and physiologic abnormalities that can occur and places special emphasis on the problems of short stature and gonadal failure. Evidence is reviewed that indicates that there is a potential for increased height with growth hormone treatment. Also discussed is the spectrum of gonadal function, ranging from the onset of spontaneous puberty and the potential for fertility to complete gonadal failure.

Turner syndrome: Four challenges across the lifespan

“…Some individuals with TS have a mosaic 46,XX/45,X (or less frequently 45,X/46,XY) karyotype, and others demonstrate the phenotype due to a major X-chromosome deletion (46,X del (X)). Physical features associated with a TS karyotype may include: ovarian failure with associated infertility, short stature, cardiovascular and renal malformations, hypertension, diabetes, hearing loss, skeletal abnormalities and neck webbing [Lippe 1991;Sybert 2001;Cunniff 2002;Elsheikh et al 2002]. Girls and women with TS generally have a normal range of cognitive abilities but may have learning difficulties, particularly related to nonverbal skills such as visual-spatial abilities, motor coordination, and mathematics [Skuse 1987;Sylven et al 1993;Saenger 1996;Lagrou et al 1998;van Borsel et al 1999;McCauley et al 2001;Ross 2001;Sybert 2001;Elsheikh et al 2002;Frias and Davenport, 2003].…”

Current and lifetime psychiatric illness in women with Turner syndrome

“…This relatively common chromosomal disorder affects *1/2500 live female births, with short stature and hypogonadism the most common clinical findings [1][2][3] . Anatomical features such as lymphedema, skeletal abnormalities and congenital heart and kidney defects are found in about 50% of affected individuals 1,2 .…”

Síndrome De Turner Con Mosaicismo 45x/46xy: Reporte De Caso

“…- en forma espontánea, y que el desorden afecta solamente 1 de cada 1800 a 5000 nacidos vivos en diferentes poblaciones (1,3). La incidencia estimada del ST en la población blanca es de 25-55 casos por cada 100.000 nacidos vivos femeninos, y tanto ésta como la prevalencia aumentan al realizar estudios cromosómicos prenatales.…”

“…La incidencia estimada del ST en la población blanca es de 25-55 casos por cada 100.000 nacidos vivos femeninos, y tanto ésta como la prevalencia aumentan al realizar estudios cromosómicos prenatales. La presencia de mosaicismos, ahora detectados por técnicas citogenéticas avanzadas, incide también sobre este aumento de la frecuencia (1,4,5). En Colombia no hay datos sobre la prevalencia ni incidencia de este síndrome.…”

“…El síndrome de Turner (ST) es una condición genética caracterizada por la ausencia total o parcial del segundo cromosoma X. Su prevalencia oscila entre 1 en 1800 a 5000 recién nacidos vivos femeninos, atribuyéndose las diferencias entre prevalencias estimadas, a la población estudiada y el momento del análisis cromosómico, sin embargo, se estima que representa hasta el 3% de todas las concepciones (1).…”