Strategies to improve early diagnosis of Klinefelter syndrome

Ferlin, Alberto

doi:10.1080/17446651.2020.1831912

Cited by 7 publications

(6 citation statements)

References 19 publications

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“…28 While penile measurement considerably increases the assessment time and the manipulation of the genitalia, with a questionable clinical performance in adolescents, an orchidometry takes less time and has a greater clinical benefit when assessing the impact of different testicular disorders, such as varicocele 29 or Klinefelter syndrome. 30 Testicular asymmetry was observed in 22% of the participants. No ancillary tests were required because it was not associated with urogenital conditions, and this finding was deemed as asynchronous testicular growth during puberty.…”

Section: Discussionmentioning

confidence: 98%

Tanner stages and Prader orchidometry in male adolescents. A descriptive, cross-sectional study

2022

Arch Argent Pediat

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Introduction. The Tanner scale and the Prader orchidometer are the instruments most commonly used to assess pubertal development in children. The assessment of puberty in the clinic is only useful if recent and reliable references in the same population are available for comparison. Objective: to assess the correlation between Tanner stages and testicular volume (TV) in Argentine adolescents. Population and methods.Study with a descriptive, cross-sectional design conducted in healthy boys aged 9-20 years. Male children and adolescents with urogenital conditions and disorders affecting testicular growth were excluded. The correlation between Tanner stages and TV was assessed using non-parametric tests. Results.A total of 367 male adolescents with an average age of 13.8 ± 2.5 years were assessed. TV increased in correlation to Tanner stages (Spearman: 0.943, p < 0.001) with significantly different volumes, except in the early genital 1-2 stages (p 0.343) and pubic hair 1-2 stages (p 0.447). Among peripubertal boys, 16% (95% confidence interval: 9.6-24.4%, n = 17/106) were wrongly classified based on Tanner stages. Conclusions.During male puberty, TV increased in correlation to Tanner stages, but no significant differences were observed between Tanner stages 1 and 2. Using the Prader orchidometer is critical to establish the onset of puberty in boys.

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Section: Discussionmentioning

confidence: 98%

Tanner stages and Prader orchidometry in male adolescents. A descriptive, cross-sectional study

2022

Arch Argent Pediat

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“…It is currently recommended that children with a diagnosis of 47,XXY undergo comprehensive developmental assessments at 9–15 months, 18–24 months and 30–36 months, 20 which can only be facilitated by antenatal or perinatal diagnosis. Antenatal detection also affords the opportunity to actively screen for, and address, somatic outcomes such as the evolution of hypogonadism (pre‐ and post‐puberty) and osteoporosis 21,22 . While interventions to preserve fertility in pre‐pubertal boys with 47,XXY remain controversial, 23,24 early diagnosis does present the opportunity for discussion around potential sperm banking and early intervention in adolescence and early adulthood 25,26 .…”

Section: Discussionmentioning

confidence: 99%

State‐wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non‐invasive prenatal testing for sex chromosome conditions

et al. 2022

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Background To analyze population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non‐invasive prenatal testing (NIPT). Methods Retrospective state‐wide data for all prenatal diagnoses performed <25 weeks gestation from 2005 to 2020 in Victoria, Australia. Non‐invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the χ2 test for trend, with p < 0.05 considered significant. Results 46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 (p < 0.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 (p < 0.0001). Conclusion Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population‐wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.

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“…28 Mientras que la medición peneana aumenta considerablemente el tiempo de evaluación y la manipulación de los genitales con un rendimiento clínico cuestionable en adolescentes, la orquidometría es más breve y tiene mayor rédito clínico al evaluar el impacto de diferentes patologías en el testículo, como varicocele 29 o síndrome de Klinefelter. 30 Se halló asimetría testicular en el 22 % de los participantes. No requirieron estudios complementarios por no estar asociada a patología urogenital y el hallazgo fue interpretado como crecimiento testicular puberal asincrónico.…”

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Estadios de Tanner y orquidometría de Prader en varones adolescentes. Estudio descriptivo transversal

2022

Arch Argent Pediat

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Introducción. La escala de Tanner y el orquidómetro de Prader son los instrumentos más utilizados para evaluar el desarrollo puberal en los niños. La evaluación de la pubertad en la clínica solo es útil si se dispone de datos de referencia recientes y confiables de la misma población para comparar. Objetivo: evaluar la correlación entre los estadios de Tanner y el volumen testicular (VT) en adolescentes argentinos.Población y métodos. Diseño descriptivo transversal, realizado con varones saludables de 9 a 20 años de edad. Se excluyeron varones con patología urogenital y enfermedades que afectan el crecimiento testicular. La correlación entre estadios de Tanner y VT fue evaluada con pruebas no paramétricas.Resultados. Se evaluaron 367 varones con una edad de 13,8 ± 2,5 años. El VT aumentó en correlación a los estadios de Tanner (Spearman 0,943; p <0,001) con volúmenes significativamente diferentes, salvo en los estadios iniciales genital 1-2 (p 0,343) y vello púbico 1-2 (p 0,447). El 16 % (intervalo de confianza del 95 % 9,6-24,4 %; n = 17/106) de los varones peripuberales fue clasificado erróneamente basado en los estadios de Tanner.Conclusiones. Durante la pubertad masculina, el VT aumentó en correlación con los estadios de Tanner, pero no presentó diferencias significativas entre los estadios 1 y 2 de Tanner. Es fundamental el uso del orquidómetro de Prader para detectar el inicio puberal en varones.

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Strategies to improve early diagnosis of Klinefelter syndrome

Cited by 7 publications

References 19 publications

Tanner stages and Prader orchidometry in male adolescents. A descriptive, cross-sectional study

Tanner stages and Prader orchidometry in male adolescents. A descriptive, cross-sectional study

State‐wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non‐invasive prenatal testing for sex chromosome conditions

Estadios de Tanner y orquidometría de Prader en varones adolescentes. Estudio descriptivo transversal

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