Whats the Chance That Klinefelter Syndrome Could Happen Again in a Future Pregnancy
Korean J Urol. 2013 April; 54(4): 263–265.
Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups
Dae Gi Jo
Department of Urology, Cheil General Hospital & Women'southward Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
Ju Tae Seo
Section of Urology, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
Joong Shik Lee
Section of Urology, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
So Yeon Park
1Laboratory of Medical Genetics, Cheil General Hospital & Women'due south Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
Jin Woo Kim
1Laboratory of Medical Genetics, Cheil General Infirmary & Women'south Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
Received 2012 Aug 31; Accepted 2012 Dec 24.
Abstract
Purpose
Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to one,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this report was to investigate the incidence of Klinefelter syndrome by employ of prenatal screening tests.
Materials and Methods
From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal written report for fetal anomalies were included. For fetuses that were diagnosed as having Klinefelter syndrome, the patients' medical records were retrospectively reviewed. Both parents' ages, the reason for the chromosomal studies, and karyotypes were investigated.
Results
We found that 22 of 18,049 (0.12%) fetuses were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 22 of 9,387 (0.23%). Also, 19 of the newborns (86.iv%) showed a karyotype of 47,XXY; the other newborns showed karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[vi]/45,Ten[i]/46,XY[95]. The mean historic period of the mothers was 36.1 years, and 2 women had a past history of a Down syndrome pregnancy. Nine mothers had a normal spontaneous commitment, 9 mothers underwent artificial abortion, and 2 fetuses were spontaneously aborted.
Conclusions
The incidence of Klinefelter syndrome every bit reported in this study is college than in previous studies. Further studies with a broader population should be considered to confirm these results.
Keywords: Karyotype, Klinefelter syndrome, Male infertility
INTRODUCTION
Klinefelter syndrome was first described in 1942 every bit an endocrine disorder caused by a supernumerary X chromosome that is characterized by gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, and increased secretion of follicle-stimulating hormone [1,ii]. Klinefelter syndrome is the nigh mutual sexual activity-chromosome disorder and affects 1/500 persons [three,4]. The prevalence of Klinefelter syndrome was reported to be 0.1% to 0.ii% in the full general population and 0.xv% to 0.17% in prenatal diagnoses [4-8]. Klinefelter syndrome is the most frequent genetic disorder of male infertility; information technology is nowadays in 10% of azoospermic men [9].
The 47,XXY karyotype is almost e'er the effect of meiotic nondisjunction during parental gamete formation, which increases with both maternal and paternal age [ten,11]. A recent report reported that the prevalence of Klinefelter syndrome is increasing [12]. Notwithstanding, Klinefelter syndrome is diagnosed prenatally and rarely postnatally because chromosomal studies are not routinely performed. Too, at nascence, virtually 47,XXY neonates appear normal.
Patients who are diagnosed with Klinefelter syndrome are often seen at an infertility clinic, but at that place are no studies on the prevalence of Klinefelter syndrome in the Korean population. We therefore investigated the incidence of Klinefelter syndrome later amniocentesis or chorionic villi biopsy.
MATERIALS AND METHODS
This was a retrospective study of 18,043 mothers who visited Cheil General Hospital & Women'south Healthcare Center and had amniocentesis, cord claret drove, or chorionic villi biopsy from Jan 2001 to December 2010. The institutional review board approved the study. Indications for chromosomal studies were as follows: avant-garde maternal historic period (≥35 years); previous kid with a de novo chromosomal abnormality; presence of a structural chromosomal abnormality in one of the parents; family unit history of a genetic disorder that could be diagnosed or ruled out past biochemical or DNA analysis; 2 continuous abortions or more than three abortions without reason; nascency to a stillborn with unknown cause; chromosomal aberration of the female parent, father, or close relatives; history of birth to a congenitally abnormal baby; fetus malformation detected by ultrasonography; positive results on a test for neural tube defects or Down's syndrome past apply the mother's serum; and a wish for such tests by the female parent.
For fetuses that were diagnosed with Klinefelter syndrome, the mothers' and fathers' ages, the reason the chromosomal studies were performed, and karyotypes were investigated. Also, the medical records of fetuses with Klinefelter syndrome were reviewed.
RESULTS
one. Incidence and karyotypes
In this study, 22 of 18,049 fetuses (0.12%) were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 0.23% (22/9387). The mean age of the mothers and fathers of the affected fetuses was 35.5 years (range, 29 to 47 years) and 38 years (range, 32 to 51 years), respectively. Likewise, 19 fetuses (86.4%) showed a karyotype of 47,XXY; the other three fetuses had karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[6]/45,10[1]/46,XY[95], respectively (Table 1).
TABLE 1
Karyotypes
two. Reasons for karyotyping
The about mutual indication for chromosomal written report was advanced maternal historic period (>35 years), and there were 16 mothers (72.7%) in this grouping. The next nearly common indicators were history of chromosomal abnormal nascency (iii mothers, xiii.6%), fetus malformation detected by ultrasonography (2 mothers, 9.1%), and chromosomal aberration of the parent (1 female parent, 4.5%) (Table 2).
TABLE two
Reasons for karyotyping
3. Pregnancy outcomes
In this study, 9 mothers (twoscore.9%) had a normal delivery, 9 mothers (40.ix%) chose bogus abortion, and 2 fetuses (9.1%) were spontaneously aborted (Table 3).
TABLE 3
Pregnancy outcomes
DISCUSSION
Klinefelter syndrome is a mutual sex activity-chromosome disorder in which males are built-in with an extra copy of the 10 chromosome. It occurs at a frequency of approximately i in 500 men and results in dumb spermatogenesis and androgen deficiency [13]. Nigh 80% of cases are due to the congenital numerical chromosome abnormality 47,XXY; the remaining 20% accept higher-grade chromosome aneuploidies (48,XXXY; 48,XXYY; 49,XXXXY), 46,XY/47,XXY mosaicism, or structurally abnormal X chromosomes [14,xv]. Our study likewise showed that 86.iv% of Klinefelter fetuses had the 47,XXY karyotype.
Klinefelter syndrome subjects are traditionally described as infertile, and semen assay near oft reveals azoospermia. Klinefelter syndrome occurs in about 10% of azoospermic men and 4% of infertile men [16]. The simply way for pregnancy in Klinefelter syndrome couples is testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection. Also, microsurgical multiple TESE (k-TESE) has shown significantly meliorate sperm recovery rates than conventional TESE [17].
A recent study suggested that the prevalence of Klinefelter syndrome may exist increasing [12]. One reason is that the 47,XXY karyotype is nearly always the consequence of meiotic nondisjunction during parental gamete formation, which increases with both maternal and paternal age [10,11]. Involvement in infertility has increased recently because the mother'due south age has increased. In our study, the average age of the mothers who had a fetus diagnosed with Klinefelter syndrome was 36.ane years and the reason that the tests were performed was the mother'south advanced historic period.
Diagnosis of Klinefelter syndrome is frequently delayed because of substantial variation in clinical presentation. Abramsky and Chapple calculated that 10% of expected cases were identified prenatally and 26% were diagnosed in babyhood or developed life because of hypogonadism, gynecomastia, or infertility, leaving 64% of cases undiagnosed [18]. This is because although Klinefelter syndrome can be diagnosed by amniocentesis or chorionic villi biopsy, these tests are non routinely performed. Modest, business firm testes and variable symptoms of androgen deficiency characterize Klinefelter syndrome males and are most often detected amidst patients with azoospermia visiting infertility clinics [xix,xx]. The low diagnosis charge per unit suggests that near males with Klinefelter syndrome will non receive potentially benign treatments, especially androgen therapy. Detection in babyhood and timely intervention may exist necessary for optimal medical and psychosocial outcomes in machismo [21].
Prior to 2009 when the mother and child health law declared abortions of Klinefelter syndrome legal, xl.nine% of mothers with fetuses with Klinefelter syndrome attempted abortion. In France the charge per unit of pregnancy termination for Klinefelter syndrome declined significantly following the creation of multidisciplinary prenatal diagnosis centers (46.9% before versus 11.6% afterwards). Stringent follow-upward is performed past geneticists, pediatricians, and endocrinologists if the parents decide to continue the pregnancy [eight].
This written report had an important limitation. The information were nerveless from a single institution and were retrospectively investigated. Thus, the report results are subject to the problems inherent in that study design; namely, selection bias and lack of the parents' medical and chromosomal information.
CONCLUSIONS
In our study, the incidence of Klinefelter syndrome in high-take chances patients was 0.24%, which is higher than in previous studies. Every bit the female parent'south age increases, the incidence of Klinefelter syndrome is thought to also increase. Data from more institutions are needed to decide a more precise incidence rate of Klinefelter syndrome. Besides, more than aggressive testing before and after birth is needed for proper management and treatment of patients with Klinefelter syndrome.
Footnotes
The authors have naught to disclose.
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Articles from Korean Periodical of Urology are provided here courtesy of Korean Urological Association
Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3630347/
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