A Case of Early Diagnosis of Turner Syndrome in a Neonate

被引:1
作者
Hemani, Fatima [1 ]
Niaz, Sana [2 ]
Kumar, Vikram [2 ]
Khan, Sheharyar [3 ]
Choudry, Erum [4 ]
Ali, Syed Rehan [2 ]
机构
[1] Indus Hosp & Hlth Network, Pediat, Karachi, Pakistan
[2] Indus Hosp & Hlth Network, Neonatol, Karachi, Pakistan
[3] Baqai Med Univ, Family Med, Karachi, Pakistan
[4] Indus Hosp Res Ctr, Indus Hosp, Dent, Karachi, Pakistan
关键词
sexual infantilism; turner syndrome; karyotype; hypogonadism; short stature; GROWTH-HORMONE;
D O I
10.7759/cureus.16733
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in approximately 1 in 2000 live birth. It occurs when the X chromosome is partially or completely missing in females caused by monosomy or structural abnormalities of the X chromosome. It is mainly diagnosed in late childhood or adolescent age and rarely identified during the neonatal period. It is characterized by short stature, webbed neck, lymphedema of extremities, widely spaced-out nipples, and cubital valgus. Early diagnosis of TS allows for appropriate and timely initiation of therapy with comprehensive care. We report a case of a neonate presented with the complaint of edema of feet since birth and syndromic features. TS was diagnosed by the chromosomal analysis, which demonstrated a gene karyotype of 46.X,i(X)(q10){20}.
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页数:5
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