FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4372294890> ?p ?o ?g. }

• W4372294890 abstract "Diagnosis and management of individuals who have differences of sex development (DSD) due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging. Girls who have Turner syndrome (45X) may present with varying phenotypic features, from classical/severe to minor, and some remain undiagnosed. Boys and girls who have 45,X/46,XY chromosomal mosaicism may have Turner syndrome-like features and short stature; therefore, unexplained short stature during childhood requires karyotype analysis in both sexes, particularly if characteristic features or atypical genitalia are present. Many individuals with Klinefelter syndrome (47XXY) remain undiagnosed or are only diagnosed as adults due to fertility problems. Newborn screening by heel prick tests could potentially identify sex chromosome variations but would have ethical and financial implications, and in-depth cost-benefit analyses are needed before nationwide screening can be introduced. Most individuals who have NSVSC have lifelong co-morbidities and healthcare should be holistic, personalized and centralized, with a focus on information, psychosocial support and shared decision-making. Fertility potential should be assessed individually and discussed at an appropriate age. Oocyte or ovarian tissue cryopreservation is possible in some women who have Turner syndrome and live births have been reported following assisted reproductive technology (ART). Testicular sperm cell extraction (TESE) is possible in some men who have 45,X/46,XY mosaicism, but there is no established protocol and no reported fathering of children. Some men with Klinefelter syndrome can now father a child following TESE and ART, with multiple reports of healthy live births. Children who have NSVSC, their parents and DSD team members need to address possibilities and ethical questions relating to potential fertility preservation, with guidelines and international studies still needed." @default.
• W4372294890 created "2023-05-07" @default.
• W4372294890 creator A5025866179 @default.
• W4372294890 creator A5036351812 @default.
• W4372294890 creator A5045917807 @default.
• W4372294890 creator A5084520779 @default.
• W4372294890 creator A5090580951 @default.
• W4372294890 date "2023-05-05" @default.
• W4372294890 modified "2023-10-14" @default.
• W4372294890 title "Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential" @default.
• W4372294890 cites W1555355045 @default.
• W4372294890 cites W1946680631 @default.
• W4372294890 cites W1996987902 @default.
• W4372294890 cites W2020611882 @default.
• W4372294890 cites W2034037346 @default.
• W4372294890 cites W2035305579 @default.
• W4372294890 cites W2059451243 @default.
• W4372294890 cites W2063149503 @default.
• W4372294890 cites W2072679514 @default.
• W4372294890 cites W2081983661 @default.
• W4372294890 cites W2094981597 @default.
• W4372294890 cites W2097665684 @default.
• W4372294890 cites W2104951407 @default.
• W4372294890 cites W2111358853 @default.
• W4372294890 cites W2122617439 @default.
• W4372294890 cites W2131221762 @default.
• W4372294890 cites W2156526029 @default.
• W4372294890 cites W2190059341 @default.
• W4372294890 cites W2292201919 @default.
• W4372294890 cites W2336506572 @default.
• W4372294890 cites W2530491399 @default.
• W4372294890 cites W2550908367 @default.
• W4372294890 cites W2589100727 @default.
• W4372294890 cites W2597727597 @default.
• W4372294890 cites W2600740673 @default.
• W4372294890 cites W2735815275 @default.
• W4372294890 cites W2756111426 @default.
• W4372294890 cites W2773875190 @default.
• W4372294890 cites W2787556478 @default.
• W4372294890 cites W2789792680 @default.
• W4372294890 cites W2790546909 @default.
• W4372294890 cites W2791732518 @default.
• W4372294890 cites W2793290189 @default.
• W4372294890 cites W2795046131 @default.
• W4372294890 cites W2803233777 @default.
• W4372294890 cites W2803714017 @default.
• W4372294890 cites W2806019911 @default.
• W4372294890 cites W2810282812 @default.
• W4372294890 cites W2810522084 @default.
• W4372294890 cites W2883982058 @default.
• W4372294890 cites W2890773078 @default.
• W4372294890 cites W2899621640 @default.
• W4372294890 cites W2907720263 @default.
• W4372294890 cites W2909325382 @default.
• W4372294890 cites W2914209497 @default.
• W4372294890 cites W2916947525 @default.
• W4372294890 cites W2923727527 @default.
• W4372294890 cites W2941725918 @default.
• W4372294890 cites W2943396964 @default.
• W4372294890 cites W2953907089 @default.
• W4372294890 cites W2954952974 @default.
• W4372294890 cites W2957955969 @default.
• W4372294890 cites W2966917325 @default.
• W4372294890 cites W2971314430 @default.
• W4372294890 cites W2971388798 @default.
• W4372294890 cites W2972471692 @default.
• W4372294890 cites W2974503767 @default.
• W4372294890 cites W2982434187 @default.
• W4372294890 cites W2995318494 @default.
• W4372294890 cites W2995657008 @default.
• W4372294890 cites W2996615731 @default.
• W4372294890 cites W2998509252 @default.
• W4372294890 cites W3003640971 @default.
• W4372294890 cites W3006738753 @default.
• W4372294890 cites W3013969264 @default.
• W4372294890 cites W3014303690 @default.
• W4372294890 cites W3017357794 @default.
• W4372294890 cites W3019356935 @default.
• W4372294890 cites W3020663005 @default.
• W4372294890 cites W3022600251 @default.
• W4372294890 cites W3024533742 @default.
• W4372294890 cites W3025987004 @default.
• W4372294890 cites W3027384300 @default.
• W4372294890 cites W3030786894 @default.
• W4372294890 cites W3031104387 @default.
• W4372294890 cites W3031309418 @default.
• W4372294890 cites W3032944456 @default.
• W4372294890 cites W3033127107 @default.
• W4372294890 cites W3034184979 @default.
• W4372294890 cites W3035811126 @default.
• W4372294890 cites W3038910913 @default.
• W4372294890 cites W3087044403 @default.
• W4372294890 cites W3109038884 @default.
• W4372294890 cites W3125098079 @default.
• W4372294890 cites W3125494427 @default.
• W4372294890 cites W3127756023 @default.
• W4372294890 cites W3127763768 @default.
• W4372294890 cites W3128833198 @default.
• W4372294890 cites W3132077920 @default.
• W4372294890 cites W3134094639 @default.

• next