Recent advances in managing and understanding Klinefelter syndrome.

Priyanka Bearelly,Robert Oates

doi:10.12688/f1000research.16747.1

Abstract

Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.

Highlights

Klinefelter syndrome (KS) is a common male chromosomal disorder (47, XXY) that has been a topic of intrigue and inquiry since the 1940s, when it was first described[1]
As a genetic condition that affects 1 in 600 live male births, KS is being seen commonly enough that it is important for practitioners to understand the wide spectrum of issues and the multidisciplinary approach that is required to appropriately treat these patients
It is essential to take note of distinct features that are known to be associated with KS, as this allows providers the opportunity to recognize undiagnosed cases

Summary

Introduction

Klinefelter syndrome (KS) is a common male chromosomal disorder (47, XXY) that has been a topic of intrigue and inquiry since the 1940s, when it was first described[1]. The authors’ study beautifully addressed the timing of germ cell loss and the rate of TESE success in a number of different age ranges They examined the testes of five fetuses with a 47, XXY karyotype and concluded that the number of germ cells identified “was not significantly different from controls”. In their “companion” study on adult KS testes, they conclude that disturbed maturation of Sertoli and Leydig cells may further inhibit, and directly impair, spermatogenesis as well[43] In their beautiful 2018 report, Skakkebæk et al further defined the genetic underpinnings of the phenotypic findings in Klinefelter males[47].

Conclusions

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PubMed Abstract

Findings

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