Turner syndrome with rapidly progressive puberty: a case report and literature review

Autor: Xuewen Yuan, Ziyang Zhu
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Journal of International Medical Research, Vol 48 (2020)
Druh dokumentu: article
ISSN: 1473-2300
03000605
DOI: 10.1177/0300060519896914
Popis: This report describes a clinically rare and atypical case of 46,X,idic(X)(q21.32)/45,X-type Turner syndrome with rapidly progressive puberty development. After 11 months of treatment with recombinant human growth hormone (rhGH), the child’s height increased. After 18 months of treatment with rhGH, the child showed secondary sex characteristics. The child was followed up for 1 year after the appearance of the secondary sex characteristics, and regular menses were still present. This case indicates that modern molecular biology techniques should be used rationally to further investigate the existence of X-chromosome translocations and occult chimeras to prevent misdiagnosis.
Databáze: Directory of Open Access Journals