Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India. Correspondence to: Dr Satinath Mukhopadhyay, Department of Endocrinology and Metabolism, IPGME and R and SSKM Hospital, Kolkata, West Bengal 700 020, India.
Indian Pediatr. 2021 Jan 15;58(1):34-37.
To describe clinical features in Indian girls with Turner syndrome along with the phenotype-karyotype correlation.
103 girls with Turner syndrome were divided into karyotype-groups: Classic (45X), 45,X/46,XX mosaics, isochromosomeXq (46,X,iXq and 45,X/46,X,iXq mosaics), 45,X/46,XYmosaics and structural defects, and analyzed for phenotypic differences.
Majority (44.1%) had classic karyotype followed by isochromosome-Xq (26.5%). Classic Turner syndrome had higher prevalence of most skeletal and cutaneous stigmata, cubitus valgus (68.3%) and multiple nevi (68.2%) being the commonest. Bicuspid aortic valve was most common in 45,X/46,XX mosaics (5/15, 33.3%), and aortic coarctation in classic TS (3/42, 7.2%). Congenital renal anomalies occurred mostly in classic TS (6/42,14.3%). Overt hypothyroidism, conductive deafness and recurrent otitis media were commonest in isochromosomes (P<0.03). 45,X/46,XY mosaics had highest IQ (P<0.005).
We report some novel associations of karyotype with non-endocrine parameters in Turner syndrome. In resource-limited settings, underlying karyotype may help prioritize screening investigations in girls with Turner syndrome.
描述特纳综合征印度女孩的临床特征，并探讨表型与核型的相关性。
将 103 名特纳综合征女孩分为核型组：经典型（45X）、45，X/46，XX 嵌合体、X 染色体等臂（46，X，iXq 和 45，X/46，X，iXq 嵌合体）、45，X/46，XY 嵌合体和结构缺陷，并分析其表型差异。
大多数（44.1%）患者为经典核型，其次是等臂 X 染色体（26.5%）。经典特纳综合征患者具有更高的大多数骨骼和皮肤特征、肘外翻（68.3%）和多发性痣（68.2%）的患病率。二叶式主动脉瓣在 45，X/46，XX 嵌合体中最为常见（5/15，33.3%），而经典 TS 中主动脉缩窄最为常见（3/42，7.2%）。先天性肾脏异常在经典 TS 中最为常见（6/42，14.3%）。明显的甲状腺功能减退、传导性耳聋和复发性中耳炎在等臂染色体中最为常见（P<0.03）。45，X/46，XY 嵌合体的智商最高（P<0.005）。
我们报告了特纳综合征中核型与非内分泌参数之间的一些新关联。在资源有限的环境中，潜在的核型可能有助于优先对特纳综合征女孩进行筛查调查。
Zotero 插件