Abstract
Turner syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X monosomy. The most frequently observed karyotype, 45, X, arises more often by loss of the paternal X or Y chromosome in meiosis or in early embryogenesis than by loss of the maternal X chromosome. The main clinical features of TS are short stature, gonadal dysgenesis, and not to undergo pubertal development (e.g. primary amenorrhea). However, a few rare cases of TS have shown precocious puberty. Our case of a 9-year-old girl did not have any TS-specific clinical hallmarks, with the exception of short stature. She visited our clinic because of her pubertal development and short stature. In this report, we highlight the variability that can occur in patients with TS and emphasizes the need to carefully assess unusual growth patterns in any child, regardless of other underlying conditions.
Highlights
Turner syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X monosomy, with a prevalence of approximately 1/2000 in female live births [1]
We report a 9-year-old patient with early pubertal development who was later diagnosed with TS and karyotyped as 46, X, der (X) t (X; X) (p11.21; q11.2)
Rare derivative X chromosomes have long been investigated. The mechanism of their formation is of particular interest, as is the genotype-phenotype correlation in TS
Summary
Turner syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X monosomy, with a prevalence of approximately 1/2000 in female live births [1]. The mosaic TS karyotype occurs in approximately 30% of all patients with TS [3]. The main clinical features of TS are short stature, gonadal dysgenesis, and congenital malformations. Most individuals with TS do not undergo pubertal development and exhibit primary amenorr-. (2016) A New Case of Turner Syndrome with Early Pubertal Development. International Journal of Clinical Medicine, 7, 342-346. One-third of all girls with TS undergo spontaneous puberty, but only half of them complete puberty with menarche. We report a 9-year-old patient with early pubertal development who was later diagnosed with TS and karyotyped as 46, X, der (X) t (X; X) (p11.21; q11.2)
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