Klinefelter’s syndrome and taurodontism

Giambersio, Emilia; Barile, Vincenzo; Giambersio, Antonio M.

doi:10.4081/aiua.2019.2.130

Cited by 9 publications

(5 citation statements)

References 11 publications

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“…185,186 There are reports on retinal dysfunction and impaired day vision/ night vision in KS. 188,189 Development of teeth may be affected, imposing as taurodontism 190 and an increased risk of caries has been reported. [191][192][193] Also, autoimmune disorders might be more frequent in KS, [194][195][196] while thyroid functions do not seem to be affected in men with KS.…”

Section: Evidencementioning

confidence: 99%

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

et al. 2020

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Background Knowledge about Klinefelter syndrome (KS) has increased substantially since its first description almost 80 years ago. A variety of treatment options concerning the spectrum of symptoms associated with KS exists, also regarding aspects beyond testicular dysfunction. Nevertheless, the diagnostic rate is still low in relation to prevalence and no international guidelines are available for KS. Objective To create the first European Academy of Andrology (EAA) guidelines on KS. Methods An expert group of academicians appointed by the EAA generated a consensus guideline according to the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) system. Results Clinical features are highly variable among patients with KS, although common characteristics are severely attenuated spermatogenesis and Leydig cell impairment, resulting in azoospermia and hypergonadotropic hypogonadism. In addition, various manifestations of neurocognitive and psychosocial phenotypes have been described as well as an increased prevalence of adverse cardiovascular, metabolic and bone‐related conditions which might explain the increased morbidity/mortality in KS. Moreover, compared to the general male population, a higher prevalence of dental, coagulation and autoimmune disorders is likely to exist in patients with KS. Both genetic and epigenetic effects due to the supernumerary X chromosome as well as testosterone deficiency contribute to this pathological pattern. The majority of patients with KS is diagnosed during adulthood, but symptoms can already become obvious during infancy, childhood or adolescence. The paediatric and juvenile patients with KS require specific attention regarding their development and fertility. Conclusion These guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.

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Section: Evidencementioning

confidence: 99%

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

et al. 2020

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“…Current studies on taurodontism has mainly focused on its association with systemic diseases and related pathogenic genes. Related systemic diseases such as tricho-dento-osseous (TDO) syndrome has also been reported [17][18][19][20]. Related pathogenic genes include: NFI-C/ CTF, EDA, RUNX2,WNT10A, WNT10B, GREM2, etc.…”

Section: Discussionmentioning

confidence: 99%

An improved diagnostic method for taurodontism and a comparative study on its effectiveness evaluation

Da,

Zhang,

Chai

et al. 2024

PLoS ONE

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Objective The two commonly used diagnostic methods for taurodontism are susceptible to aging changes, mastication wear and other factors. Therefore, this study proposed an improved diagnostic method for taurodontism, and compared it with the previous two methods as a supplement for taurodontism diagnosis. Methods The included patients were aged 10–89 years and admitted to the Department of Stomatology of Hebei Eye Hospital from June 1, 2022 to May 31, 2023. Eighty cone-beam computed tomography images were divided equally into 4 groups: 10–29, 30–49, 50–69, and 70–89 years old. The right mandibular first molars were selected as measurement objects. Firstly, |BD| and taurodontism index (TI)-related parameters were measured using Shifman and Chanannel’s method and crown-body(CB) and root (R) lengths was measured by Seow and Lai’s method. The improved method used the length from the cementoenamel junction(CEJ) to the root bifurcation point(body, B)and the root length(root, R)as the measurement objects. Finally, TI, CB/R ratios, and B/R ratios were calculated according to the formulas given below. One-way ANOVA analysis was mainly used to compare the differences in the values, indices and ratios of taurodontism among different age groups (p<0.05). Results With the increase of age, |BD| and TI values decreased significantly (p<0.01). The CB/R ratios of 70–89 years group were significantly lower than those of the other three groups (p<0.01). Ratios derived from the improved method were significantly lower in the 70–89 years than in 10–29 years group (p<0.05). Conclusions The |BD| and TI parameters proposed by Shifman and channel are significantly influenced by age. The measurements of Seow and Lai (CB/R ratios) were less affected by age compared with those of the former. The improved method(B/R ratios) was least affected by age, which would reduce error and bias in the measurement of taurodontism and obtain more objective results in older patients.

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“…Although commonly seen as an isolated trait, hereditary factors also play a certain role in the occurrence of taurodontism. There were occasional reports that taurodontism may be associated with several syndromes, such as trichodento-osseous syndrome (TDO) [ 15 ], echodactyly ectodermal dysplasia-cleft lip/palate (EEC), ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [ 16 ], Klinefelter's syndrome [ 17 ] and laurence-moon-Bardet-biedl syndrome (LM/BBS) [ 18 ]. This means that dentists may be the first to discover these systemic syndromes.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of taurodontism in individuals in Northwest China determined by cone-beam computed tomography images

Li¹,

Qian²,

Wang³

et al. 2023

Heliyon

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Klinefelter’s syndrome and taurodontism

Cited by 9 publications

References 11 publications

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

An improved diagnostic method for taurodontism and a comparative study on its effectiveness evaluation

Prevalence of taurodontism in individuals in Northwest China determined by cone-beam computed tomography images

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