Uncommon presentation: monozygotic twins with Turner syndrome.

Autor:	Rehman B; Pediatrics and Child Health, The Aga Khan University Hospital Main Campus Karachi, Karachi, Sindh, Pakistan., Shariff Y; PGME, The Aga Khan University Hospital, Karachi, Sindh, Pakistan., Arif M; Pediatrics and Child Health, The Aga Khan University Hospital Main Campus Karachi, Karachi, Sindh, Pakistan., Memon F; Pediatrics and Child Health, The Aga Khan University Hospital Main Campus Karachi, Karachi, Sindh, Pakistan doctorfmemon@gmail.com.
Jazyk:	angličtina
Zdroj:	BMJ case reports [BMJ Case Rep] 2024 Oct 30; Vol. 17 (10). Date of Electronic Publication: 2024 Oct 30.
DOI:	10.1136/bcr-2024-262946
Abstrakt:	Turner syndrome (TS) affects approximately 1 in 2500 female live births globally, making it the most common sex chromosomal abnormality in females. It results from a partially or completely missing X chromosome, often occurring in mosaic karyotypes. TS is associated with various health issues, including short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital heart defects, endocrine disorders and autoimmune disorders. TS is less prevalent among twins. Since the first case report in 1938, the association between TS and twinning has been noted in only 30 cases worldwide. However, only six reports exist of monozygotic non-mosaic twins with TS, all 45,XO. Although TS affects individuals worldwide, the literature on TS in Asian twins is sparse, with no reported cases from Asia. This scarcity underscores the need for further research to understand this region's epidemiology and challenges. This case report highlights the importance of evaluating both twins if one is diagnosed with TS. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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