Published October 13, 2021
| Version v1
Publication
Open
Genetics of pubertal delay
Creators
- 1. Queen Mary University of London
- 2. William Harvey Research Institute
- 3. Prince of Songkla University
Description
The timing of pubertal development is strongly influenced by the genetic background, and clinical presentations of delayed puberty are often found within families with clear patterns of inheritance. The discovery of the underlying genetic regulators of such conditions, in recent years through next generation sequencing, has advanced the understanding of the pathogenesis of disorders of pubertal timing and the potential for genetic testing to assist diagnosis for patients with these conditions. This review covers the significant advances in the understanding of the biological mechanisms of delayed puberty that have occurred in the last two decades.
Translated Descriptions
⚠️
This is an automatic machine translation with an accuracy of 90-95%
Translated Description (Arabic)
يتأثر توقيت نمو البلوغ بشدة بالخلفية الوراثية، وغالبًا ما توجد العروض السريرية للبلوغ المتأخر داخل العائلات ذات الأنماط الواضحة من الميراث. إن اكتشاف المنظمين الجينيين الأساسيين لمثل هذه الحالات، في السنوات الأخيرة من خلال تسلسل الجيل التالي، قد طور فهم التسبب في اضطرابات توقيت البلوغ وإمكانية إجراء الاختبارات الجينية للمساعدة في تشخيص المرضى الذين يعانون من هذه الحالات. تغطي هذه المراجعة التقدم الكبير في فهم الآليات البيولوجية لتأخر البلوغ الذي حدث في العقدين الماضيين.Translated Description (French)
Le moment du développement pubertaire est fortement influencé par le contexte génétique, et les présentations cliniques de la puberté retardée sont souvent trouvées au sein des familles ayant des schémas héréditaires clairs. La découverte des régulateurs génétiques sous-jacents de ces affections, ces dernières années grâce au séquençage de nouvelle génération, a fait progresser la compréhension de la pathogenèse des troubles du calendrier pubertaire et du potentiel des tests génétiques pour aider au diagnostic des patients atteints de ces affections. Cette revue couvre les avancées significatives dans la compréhension des mécanismes biologiques de la puberté retardée qui se sont produites au cours des deux dernières décennies.Translated Description (Spanish)
El momento del desarrollo puberal está fuertemente influenciado por los antecedentes genéticos, y las presentaciones clínicas de la pubertad retrasada a menudo se encuentran dentro de las familias con patrones claros de herencia. El descubrimiento de los reguladores genéticos subyacentes de tales afecciones, en los últimos años a través de la secuenciación de próxima generación, ha avanzado en la comprensión de la patogénesis de los trastornos del momento de la pubertad y el potencial de las pruebas genéticas para ayudar al diagnóstico de los pacientes con estas afecciones. Esta revisión cubre los avances significativos en la comprensión de los mecanismos biológicos de la pubertad tardía que se han producido en las últimas dos décadas.Files
cen.14606.pdf
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Additional details
Additional titles
- Translated title (Arabic)
- علم الوراثة لتأخر البلوغ
- Translated title (French)
- Génétique du retard pubertaire
- Translated title (Spanish)
- Genética del retraso puberal
Identifiers
- Other
- https://openalex.org/W3202487455
- DOI
- 10.1111/cen.14606
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