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Review
. 2018 Dec 8;18(2):140-150.
doi: 10.1002/rmb2.12261. eCollection 2019 Apr.

Klinefelter syndrome: From pediatrics to geriatrics

Koji Shiraishi  1 , Hideyasu Matsuyama  1
Affiliations
Review

Klinefelter syndrome: From pediatrics to geriatrics

Koji Shiraishi et al. Reprod Med Biol. .

Abstract

Background: Klinefelter syndrome (KS) is one of the major causes of nonobstructive azoospermia (NOA). Microdissection testicular sperm extraction (micro-TESE) is often performed to retrieve sperm. Infertility specialists have to care for KS patients on a lifelong basis.

Methods: Based on a literature review and our own experience, male infertility treatment and KS pathophysiology were considered on a lifelong basis.

Main findings: Patients diagnosed early often have an increased number of aberrant X chromosomes. Cryptorchidism and hypospadias are often found, and surgical correction is required. Cryopreservation of testicular sperm during adolescence is an issue of debate because the sperm retrieval rate (SRR) in KS patients decreases with age. The SRR in adult KS patients is higher than that in other patients with NOA; however, low testosterone levels after micro-TESE will lower the general health and quality of life. KS men face a number of comorbidities, such as malignancies, metabolic syndrome, diabetes, cardiovascular disease, bone disease, and immune diseases, which ultimately results in increased mortality rates.

Conclusion: A deeper understanding of the pathophysiology of KS and the histories of KS patients before they seek infertility treatment, during which discussions with multidisciplinary teams are sometimes needed, will help to properly treat these patients.

Keywords: Klinefelter syndrome; comorbidity; microdissection testicular sperm extraction; nonobstructive azoospermia; pediatrics; testosterone.

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Conflict of interest statement

Conflict of interest: The authors declare no conflict of interest. Human rights statement and informed consent: This article does not contain any study with human participants that have been performed by any of the authors. Animal studies: This article does not contain any study with animal participants that have been performed by any of the authors.

Figures

Figure 1
Figure 1
Photographs of proximal hypospadias and penoscrotal disposition in a newborn with a 49,XXXXY karyotype are shown (A). The scrotum is raised, and a small penis is observed (B). This patient was managed with bilateral orchiopexy and a 2‐stage hypospadias repair with a simultaneous correction of a penoscrotal transposition repair
Figure 2
Figure 2
The numbers of patients and sperm retrieval rates in adolescents who underwent conventional (A) and micro‐testicular sperm extraction (B) procedures are shown. The closed bar indicates no sperm retrieval, and the open bar indicates successful sperm retrieval
Figure 3
Figure 3
The symptoms of and strategies for managing Klinefelter syndrome on a lifelong basis and the roles of those who should participate in the management
See this image and copyright information in PMC

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