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01.12.2018 | Research article | Ausgabe 1/2018 Open Access

BMC Endocrine Disorders 1/2018

FSH may be a useful tool to allow early diagnosis of Turner syndrome

BMC Endocrine Disorders > Ausgabe 1/2018
Stela Carpini, Annelise Barreto Carvalho, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
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Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12902-018-0236-4) contains supplementary material, which is available to authorized users.



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. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood.


Retrospective 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.


Abnormally 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.


Karyotyping 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.
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