Turner’s Syndrome

Guarneri, Maria Pia; Abusrewil, Suleiman; Bernasconi, Sergio; Bona, G; Cicognani, Alessandro; Battista, E. Di; Salvatoni, Alessandro

doi:10.1515/jpem-2001-s208

Cited by 12 publications

(5 citation statements)

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“…However, the fact that TS subjects diagnosed at a younger age usually present a more distinct phenotype, which is probably due to the greater X-chromosomal DNA loss [8,17], suggests that the various X-chromosomal effects on MOP, as described in our results above, should be rather expected in TS subjects who have already been diagnosed in childhood, as was the case in our study. On the other hand, the distribution of TS subjects showing signs of spontaneous pubertal development in our study corresponds well with the literature indicating that our patient sample was truly representative [1,10,12,22,27].…”

Section: Discussionsupporting

confidence: 91%

Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome

Haverkamp¹,

Keuker²,

Woelfle³

et al. 2003

European Journal of Pediatrics

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In Turner syndrome (TS), an X-chromosomal anomaly characterised by total or partial loss of the second X-chromosome, muscle hypotonia, and lower proficiency in fine and gross motor skills have been described. It is assumed that the neuromotor phenotype in TS is linked with X-chromosomal factors (individual mosaicism) and with the oestrogen deficiency due to streak gonads. From studies in normal populations, a further risk factor may be recurrent otitis media (OM), which occurs frequently in TS, often in combination with hearing impairment (HI). It is also likely that familial factors are involved. The aim of our study was to specify the respective impact of the interindividual varying status of mosaicism and of hypergonadotropic hypogonadism as well as of the risk factors recurrent OM and HI in comparison to familial coinfluences on the neuromotor proficiency (MOP) in TS. We used the Bruininks-Oseretsky Test of Motor Proficiency to examine 105 subjects with TS (mean age 9.4 years; SD 3.3 years) and 52 sisters (mean age 9.8 years; SD 3.7 years). Significant correlations were found for familial covariance regarding the relation between TS subjects and their sisters ( r=0.42, P<0.01) and HI and MOP ( r=-0.39, P<0.01) CONCLUSION: we conclude that the familial influences and risk factors such as recurrent otitis media in combination with hearing impairment serve primarily as important predictors of the individual neuromotor phenotype in Turner syndrome.

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Section: Discussionsupporting

confidence: 91%

Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome

Haverkamp¹,

Keuker²,

Woelfle³

et al. 2003

European Journal of Pediatrics

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“…Our earlier study has demonstrated an increased risk for NDDs in Klinefelter syndrome, which has hypogonadism as one of the clinical features . NDDs and hypogonadism also co‐occur in other defined genetic syndromes such as Turner, Prader‐Willi, Bardet‐Biedl and CHARGE syndromes . Additionally, hypospadias, a common congenital malformation, which is sometimes caused by androgen insufficiency, increase the risk of an NDD …”

Section: Introductionmentioning

confidence: 99%

“…22,23 NDDs and hypogonadism also co-occur in other defined genetic syndromes such as Turner, Prader-Willi, Bardet-Biedl and CHARGE syndromes. [24][25][26][27] Additionally, hypospadias, a common congenital malformation, which is sometimes caused by androgen insufficiency, increase the risk of an NDD. 28 Based on the earlier evidence, we hypothesised that patients with HH and diagnosed delayed puberty would also be at higher risk for NDDs.…”

mentioning

confidence: 99%

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

Gotby

Söder

Frisén

et al. 2019

J Neuroendocrinology

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Hypogonadotrophic hypogonadism (HH) is a rare disorder that manifests absent puberty and infertility. Genetic syndromes with hypogonadism, such as Klinefelter syndrome, are associated with an increased risk of neurodevelopmental disorders (NDDs). However, it is not clear whether patients with HH or transient delayed puberty in general, have an increased risk of NDDs. We performed a register‐based study on a national cohort of 264 patients with HH and 7447 patients diagnosed with delayed puberty that was matched with 2640 and 74 470 controls, respectively. The outcome was defined as having any of the following NDD diagnoses: (i) autism spectrum disorder (ASD); (ii) attention deficit hyperactivity disorder (ADHD); or (iii) intellectual disability (ID). Additional sensitivity analyses were performed to control for different parental and birth variables, as well as diagnosed malformation syndromes and chromosomal anomalies (ie, Down’s and Turner syndromes). Patients with HH had increased risk for being diagnosed with ASD (odds ratio [OR] = 5.7; 95% confidence interval [CI] = 2.6‐12.6), ADHD (OR = 3.0; 95% CI = 1.8‐5.1) and ID (OR = 18.0; 95% CI = 8.9‐36.3) compared to controls. Patients with delayed puberty also had a significantly increased risk of being diagnosed with an NDD. These associations remained significant after adjustments. This is the first study to demonstrate a significant association between HH, delayed puberty and NDDs in a population‐based cohort. Clinicians should be aware of the overlap between these disorders. Further studies should explore the mechanisms behind these associations.

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“…Синдром Шерешевского-Тернера СШ-Твстречается c частотой 1:2500 новорожденных девочек [8,12,21,45,46,[49][50][51]55]. Классическими клиническими проявлениями СШТ являются низкий рост и гипогонадизм.…”

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SOSTOYaNIE MINERAL'NOY PLOTNOSTI KOSTNOY TKANI I KOSTNOGO METABOLIZMA PRI SINDROME ShEREShEVSKOGO - TERNERA Obzor literatury

Dragun¹,

SEMIChEVA²,

Andreeva³

2005

Osteopor Bone Dis

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Turner’s Syndrome

Cited by 12 publications

References 0 publications

Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome

Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

SOSTOYaNIE MINERAL'NOY PLOTNOSTI KOSTNOY TKANI I KOSTNOGO METABOLIZMA PRI SINDROME ShEREShEVSKOGO - TERNERA Obzor literatury

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