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. 2018 Feb 7;18(1):8.
doi: 10.1186/s12902-018-0236-4.

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

Stela Carpini  1 , Annelise Barreto Carvalho  2 , Sofia Helena Valente de Lemos-Marini  1 , Gil Guerra-Junior  1 , Andréa Trevas Maciel-Guerra  3
Affiliations

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

Stela Carpini et al. BMC Endocr Disord. .

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Follicle-stimulating hormone; Gonadal dysgenesis; Luteinizing hormone; Puberty delayed; Turner syndrome.

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Conflict of interest statement

Ethics approval and consent to participate

The work was approved by the Research Ethics Committee of Medical Science Faculty – University of Campinas (UNICAMP). Number 931/2008, CAAE 0352.0.146.000–08. The study was exempt from written informed consent from the subjects due to its retrospective design and noninterventional nature of the study protocol.

Consent for publication

Not applicable.

Competing interests

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Gonadotropins levels in different ages in girls with Turner syndrome. Hormone values are presented in the y-axis on a logarithmic scale. The lines on the y-axis represent the lower and upper normal limits for a) FSH and b) LH concentrations. Levels above the upper limits were considered post-menopausal and those below the lower limits were regarded as pre-pubertal
See this image and copyright information in PMC

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