Abstract
BackgroundUltrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood.MethodsRetrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0.5 years), early childhood (0.5–5 years), mid-childhood (5–10 years) and late childhood/adolescence (> 10 years). In newborn/mini-puberty and late childhood/adolescence pre-pubertal or pubertal gonadotropins were considered normal; in early childhood and mid-childhood concentrations above the pre-pubertal range were considered abnormal.ResultsAbnormally high FSH alone was found in four of five patients in newborn/mini-puberty, 13 of 15 during early childhood and nine of 15 during mid-childhood. In the group of 12 patients in late childhood/adolescence, the three girls with spontaneous puberty had only normal levels; the remaining showed only post-menopausal concentrations. In mid-childhood one patient exhibited only pre-pubertal FSH. Conversely, most LH measurements in early and mid-childhood were normal.ConclusionKaryotyping of girls with short stature and high FSH levels would allow early diagnosis of Turner syndrome in a significant number of patients, particularly when resources for chromosome study of all girls with growth deficiency are limited.
Highlights
Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce
This is the case with Turner syndrome (TS), which has an incidence of 1:2,130 female newborns [1] and is characterized by the presence of a normal X chromosome and partial or total loss of the other sex chromosome, X or Y
In mid-childhood the decline of luteinizing hormone (LH) compared to the previous period was less striking than that of follicle-stimulating hormone (FSH), and prepubertal levels were often seen (Fig. 1 and Table 2). Gonadotropins levels in this sample expressed the same biphasic age pattern found by Conte et al [9]; the use of an ultrasensitive assay in the present study revealed that, different from what was observed by those authors, the decline in plasma FSH seldom reaches pre-pubertal levels in early and mid-childhood
Summary
Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. In the genomics era, some genetic disorders remain a challenge to diagnosis due to wide phenotypic variability and/or lack of widespread availability of genetic tests, in developing countries. This is the case with Turner syndrome (TS), which has an incidence of 1:2,130 female newborns [1] and is characterized by the presence of a normal X chromosome and partial or total loss of the other sex chromosome, X or Y. The most constant features are short stature and primary hypogonadism due to gonadal dysgenesis [3]
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