Spontaneous puberty in girls with early diagnosis of Turner syndrome

Carpini, Stela; Carvalho, Annelise Barreto de; Guerra‐Júnior, Gil; Baptista, Mónica; Lemos-Marini, Sofia Helena Valente de; Maciel‐Guerra, Andréa Trevas

doi:10.1590/s0004-27302012000900009

Cited by 20 publications

(14 citation statements)

References 16 publications

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“…Higher frequencies of spontaneous puberty were observed by Visser et al (), where 54% of their TS subjects older than 12 years had spontaneous breast development and 17% had a history of spontaneous menarche (Visser et al, ). Carpini et al () found that 6/16 TS girls had spontaneous pubertal development; there was no progression of puberty. They presented with breast development (until Tanner breast stage 2 [B2] in three cases, B3 in two, and B4 in one case), menarche occurred in 6 of the remaining 10 patients, with a mean age of 13.7 years (range: 12.0–15.8 years); the other 4 patients were aged 12.4–14.0 years (Carpini et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Carpini et al () found that 6/16 TS girls had spontaneous pubertal development; there was no progression of puberty. They presented with breast development (until Tanner breast stage 2 [B2] in three cases, B3 in two, and B4 in one case), menarche occurred in 6 of the remaining 10 patients, with a mean age of 13.7 years (range: 12.0–15.8 years); the other 4 patients were aged 12.4–14.0 years (Carpini et al, ).…”

Section: Discussionmentioning

confidence: 99%

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Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy

Hamza

Mira

Hamed

et al. 2018

American J of Med Genetics Pt A

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Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. Fifty TS were compared to 50 age- and sex-matched controls. All subjects were subjected to history, anthropometric assessment, Tanner pubertal staging and measurement of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and AMH. Karyotype results were obtained from patients' records. Serum AMH was measurable in 12 TS patients (24%). The lowest frequency of measurable AMH was in patients with a karyotype of 45,X. The measurable AMH was associated with spontaneous breast development (p = .003) and spontaneous menarche (p = .001). AMH correlated negatively with FSH (r = -.846, p = .000) and LH (r = -.83, p = .034). GH therapy increased the odds of having measurable AMH in TS girls (p = .002). In conclusion, AMH was associated with karyotype, spontaneous pubertal development, LH, and FSH in TS girls and may serve as a useful marker of ovarian function and ongoing follicular development in prepuberty.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy

Hamza

Mira

Hamed

et al. 2018

American J of Med Genetics Pt A

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“…The abovementioned studies ( 7 , 8 , 9 , 10 ) also describe cases in which estrogen replacement was required because full sexual maturation was not reached, despite the spontaneous onset of puberty. These findings indicate that there are many cases of incomplete ovarian function.…”

Section: Discussionmentioning

confidence: 99%

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

Tanaka

Igarashi²,

Ozono

et al. 2015

Clin Pediatr Endocrinol

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Abstract.The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty.

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“…It is currently known that up to 40% of TS girls may have some degree of spontaneous pubertal development and up to 19% may have complete puberty and menses [ 7 ]; these figures may be even higher when the sample is not biased towards patients with hypogonadism [ 25 ]. Thus, some patients with residual ovarian function may have normal gonadotropins levels throughout childhood and escape diagnosis when these hormones are measured.…”

Section: Discussionmentioning

confidence: 99%

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

Carpini

Carvalho²,

Lemos-Marini

et al. 2018

BMC Endocr Disord

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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.Electronic supplementary materialThe online version of this article (10.1186/s12902-018-0236-4) contains supplementary material, which is available to authorized users.

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Spontaneous puberty in girls with early diagnosis of Turner syndrome

Cited by 20 publications

References 16 publications

Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy

Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

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

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