Care of girls and women with Turner syndrome: beyond growth and hormones

Abstract

Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS.

Proteomics Analysis for Identification of Potential Cell Signaling Pathways and Protein Targets of Actions of Atractylodin and β-Eudesmol Against Cholangiocarcinoma

“…The human colon cancer cell cycle arrest at the G2 phase was induced by tetraarsenic hexoxide through increasing p21 and decreasing cyclin B levels (Nagappan et al, 2017). For the last checkpoint at M phase, the mistake of this process can lead to several conditions including Down's syndrome (Herault and Delabar, 2017), turner's syndrome (Culen et al, 2017) and acute myeloid leukemia (addition copy of chromosome 8) (Nucifora and Rowley, 1995).…”

Less ready for adulthood?—Turner syndrome has an impact on transition readiness

“…The characteristic neuropsychological, social and emotional profile of girls and women with TS has now been well recognized and extensively studied 16‐18,30,31 . The effect of X‐chromosomal loss on neurocognition and behaviour per se and mediated by oestrogen deficiency is complex and has been discussed in detail before 32 …”

“…Recent consensus guidelines and reviews on the care of patients with TS univocally include summaries on the specific neurocognitive profile in TS 17,20,38 and recommend age‐appropriate psychological testing, training and support in order to optimize school performance and satisfaction with educational and occupational achievements 17,18 . Likewise, transition and transfer of care for girls and young women with TS is given considerable space in recently published work cited above—notably, authors stress, that the age of transfer to adult medical care might have to be individualized.…”

“…Neurocognitive involvement and delayed developmental maturation in complex chronic conditions affect successful transfer to adult care 14 . TS can be associated with mild neurocognitive challenges and difficulties in social behaviour 15‐18 in addition, puberty is often delayed and personal maturity sets on later in life in young girls and women with TS. This is associated with decreased self‐confidence and with a lower degree of autonomy than peers 19 …”

Datenerfassung in der medizinischen Forschung mittels Fragebogen: Ergebnisse einer Befragung von Frauen mit Ullrich-Turner-Syndrom

“…Mai 2018 im Hörsaal der Universitäts-Kinderklinik Tübingen eine Veranstaltung mit dem Thema "Symposium zur Verbesserung der medizinischen Betreuung von Frauen mit Turner-Syndrom in Deutschland" statt. Zur Betreuung der Frauen, insbesondere nach dem Ende der Betreuung beim Kinder-und Jugendarzt, liegen zahlreiche Empfehlungen und Stellungnahmen vor [19][20][21][22][23][24][25][26][27].…”