Measured parental height in Turner syndrome—a valuable but underused diagnostic tool

Ouarezki, Yasmine; Çizmecioğlu, Filiz Mine; Mansour, Chourouk; Jones, Jeremy; Gault, Emma Jane; Mason, Avril; Donaldson, Malcolm

doi:10.1007/s00431-017-3045-2

Cited by 9 publications

(3 citation statements)

References 19 publications

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“…Our results are in line with data from adult Indian patients diagnosed with TS because of amenorrhea in more than three-quarters of cases [12]. The evaluation of growth based on personal anthropometric data and parental height measurements may be a valuable tool for identifying abnormalities not only in children, but adults as well [13]. Thus, the auxological assessment should not be overlooked in routine adult endocrinological practice, as sometimes happens.…”

Section: Discussionsupporting

confidence: 86%

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

Robeva¹,

Еленкова²,

Zacharieva³

2023

Clin. Exp. Obstet. Gynecol.

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Background: Turner syndrome (TS) is a well-known genetic condition associated with increased morbidity and mortality in adult patients. Accordingly, comprehensive guidelines for TS follow-up across the lifespan have been developed. However, the data about their implementation in clinical practice need to be expanded. The present study aims to describe a cohort of adult East-European TS patients and to highlight pitfalls in long-term medical care. Methods: Data from 45 TS women (18-53 years) were included in the present retrospective study. Personal history of the patients along with anthropometric, cytogenetic, clinical, and laboratory parameters were collected. Results: The median age of initial diagnosis was 15 years varying between one and forty-nine years, with nearly one-third of patients being diagnosed as adults. TS women treated with growth hormone during childhood were, on average, 5 cm taller than the non-treated patients (150.00 [147.00-155.00] vs. 145.00 [140.25-150.75], p = 0.055). Patients on hormone replacement therapy (HRT) had higher high density lipoprotein (HDL) cholesterol levels (1.80 mmol/L [1.44-1.99] vs. 1.55 mmol/L [1.31-1.74], p = 0.041) and lower follicle-stimulating hormone levels ], p = 0.008) compared to non-treated women. Adherence to HRT was suboptimal, with only 55.6% of hypogonadal women being on hormonal treatment. The presence of comorbidities was increased as expected, but the percentage of hypertensive TS patients was lower than usually reported (11.1%). Conclusions: Growth hormone and estrogen replacement therapy might exert different positive effects on TS patients. However, the late diagnosis of TS and low adherence to treatment could limit the beneficial hormonal effects. A tendency for a more accurate diagnosis of concomitant endocrine diseases compared to non-endocrine conditions in TS patients has been observed. These results support the need for dedicated multidisciplinary teams focused on TS diagnosis and adult follow-up worldwide.

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Section: Discussionsupporting

confidence: 86%

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

Robeva¹,

Еленкова²,

Zacharieva³

2023

Clin. Exp. Obstet. Gynecol.

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“…[ 41 ] Mid parental height was found to have an effect on final height of TS patients in agreement with others. [ 42 43 44 ]…”

Section: Discussionmentioning

confidence: 99%

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

Ossama,

Kholeif,

Elhady

2023

Journal of Human Reproductive Sciences

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Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood. Because of the associated risk of gonadoblastoma, mosaicism is especially important in case this involves a Y chromosome. Aims: This study was set to determine the value of additional genetic studies such as fluorescent in situ hybridisation and the inclusion of buccal cells in search for mosaicism in TS patients. Settings and Design: This cross-sectional, descriptive study was performed in Human Genetics Department, Medical Research Institute, Alexandria University. Materials and Methods: Fluorescence in situ hybridisation technique was applied to lymphocyte cultures as well as buccal smears using centromeric probes for X and Y chromosomes. Genotype phenotype correlation was also evaluated. Statistical Analysis Used: Descriptive study where categorical variables were described using number and percentage and continuous variables were described using mean and standard deviation. Results: Fluorescence in situ hybridisation technique study detected hidden mosaicism in 60% of studied patients; 20% of patients had a cell line containing Y material, while 40% had variable degrees of X, XX mosaicism, and in the remaining 40% no second cell line was detected. Fluorescence in situ hybridisation study helped identify the origin of the marker to be Y in all patients. The introduction of an additional cell line helped in identifying mosaicism in patients with monosomy X. Virilisation signs were only observed among TS patients with Y cell line mosaicism. The clinical manifestations were more severe in patients with monosomy X than other mosaic cases. Conclusions: Molecular cytogenetic investigation for all suspected cases of TS should be considered for appropriate treatment plan and genetic counselling.

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“…It is clinical convention that a screening karyotype should be performed in all short girls 21 . However, interpreting height in the parental context may be more specific for the diagnosis of TS, especially with a girl who is relatively tall 22 . We hypothesized that skeletal disproportion in a girl with a milder degree of short stature may be an additional clue to raise clinical suspicion of TS.…”

Section: Discussionmentioning

confidence: 99%

Skeletal disproportion in girls with Turner syndrome and longitudinal change with growth‐promoting therapy

McVey

Fletcher

Murtaza

et al. 2021

Clinical Endocrinology

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Objective Short stature in Turner syndrome (TS) may be accompanied by skeletal disproportion. This retrospective study investigates growth and disproportion from early childhood to adult height. Study design Data were collected from 59 girls prior to growth hormone (rhGH) treatment and in 30 girls followed up longitudinally. Standard deviation scores (SDS) for height (Ht), sitting height (SH) and sub‐ischial leg length (LL) were compared and a disproportion score (SH SDS – LL SDS) calculated. Results In 59 girls, mean (SD) age 6.6 (2.1) years prior to rhGH treatment, LL SDS of −3.4 (1.1) was significantly lower than SH SDS of −1.2 (0.8) [p < .001]. In girls with Ht SDS < −2.0, disproportion score was > +2.0 in 27 (63%), cf eight (50%) with Ht SDS ≥ −2.0. For the longitudinal analysis, skeletal disproportion prior to rhGH was +2.4 (1.1) and +1.7 (1.0) on rhGH but prior to introduction of oestrogen [p < .001]. Disproportion at adult height was +1.1 (0.8), which was less marked than at the earlier time points [p < .001 for both comparisons]. Change in disproportion SDS over the first two years of rhGH predicted overall change in disproportion from baseline to adult height [R2 51.7%, p < .001]. Conclusion TS is associated with skeletal disproportion, which is more severe in the shortest girls and present in only half of those with milder degrees of short stature. Growth‐promoting therapy may improve disproportion during both the childhood and pubertal phases of growth. Change in disproportion status two years after starting rhGH helps predict disproportion at adult height.

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Measured parental height in Turner syndrome—a valuable but underused diagnostic tool

Cited by 9 publications

References 19 publications

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

Skeletal disproportion in girls with Turner syndrome and longitudinal change with growth‐promoting therapy

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