Sow D S, Bah M, Traoré D, Dante M L, Mariko M, Traoré B, N'Diaye H D, Doumbia N, Sidibé A T
Service de Médecine interne et d'Endocrinologie de l'Hôpital du Mali -Bamako.
Mali Med. 2018;33(2):21-22.
Turner syndrome is a chromosomal aberration linked to the complete or partial absence of an X chromosome. Its prevalence is 1/2500 female newborns. We report a case in the department of internal medicine and endocrinology of the hospital of MALI. This was a 14-year old girl who consulted for stunting and puberty. She presented clinically a dysmorphic syndrome, TANNER stage1 secondary sexual characteristics, weight and height at -3 DS and a bone age estimated to 9½ years old on the X-ray of the hand. The hormonal assessment showed an elevation of FSH and LH and the genetic study showed an iso chromosome Xq. This result was part of a Turner syndrome with Xq iso chromosome.
特纳综合征是一种与X染色体完全或部分缺失相关的染色体畸变。其发病率为1/2500女性新生儿。我们报告了马里医院内科和内分泌科的一例病例。这是一名14岁女孩，因生长发育迟缓及青春期问题前来就诊。她临床上表现为畸形综合征、坦纳1期第二性征、体重和身高低于正常标准3个标准差，手部X线显示骨龄估计为9.5岁。激素评估显示促卵泡生成素（FSH）和促黄体生成素（LH）升高，基因研究显示Xq等臂染色体。该结果属于伴有Xq等臂染色体的特纳综合征。
