Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome / 亚洲男科学杂志(英文版)

Klinefelter syndrome (KS) is one of the most frequent genetic abnormalities and the leading genetic cause of nonobstructive azoospermia. The breeding and study of KS mouse models are essential to advancing our knowledge of the underlying pathological mechanism. Karyotyping and fluorescence in situ hybridization are reliable methods for identifying chromosomal contents. However, technical issues associated with these methods can decrease the efficiency of breeding KS mouse models and limit studies that require rapid identification of target mice. To overcome these limitations, we developed three polymerase chain reaction-based assays to measure specific genetic information, including presence or absence of the sex determining region of chromosome Y (Sry), copy number of amelogenin, X-linked (Amelx), and inactive X specific transcripts (Xist) levels. Through a combined analysis of the assay results, we can infer the karyotype of target mice. We confirmed the utility of our assays with the successful generation of KS mouse models. Our assays are rapid, inexpensive, high capacity, easy to perform, and only require small sample amounts. Therefore, they facilitate the breeding and study of KS mouse models and help advance our knowledge of the pathological mechanism underlying KS.

Clinical features and sex hormone parameters analysis in 227 male patients with 47,XXY / 中华内分泌代谢杂志

Objective To explore clinical characteristics of patients with Klinefelter′s syndrome(KS; 47,XXY).Methods 227 male patients with 47,XXY treated by artificial insemination with donor(AID)were included.Age, education, height, weight, body mass index(BMI), testicular volume, FSH, LH, testosterone(T), prolactin(PRL), estradiol(E2)were analyzed retrospectively.Results Of these patients, their height were(176.4±5.5)cm, weight(74.5±12.7)kg, BMI(23.89±3.66)kg/m2[77 of overweight(33.92%)and 34 of obesity(14.98%)], FSH(38.35±14.33)IU/L, LH(19.40±9.00)IU/L, T(132.00±194.50)ng/dl, E2(23.90±15.00)ng/L, PRL(10.50±8.20)μg/L, E2/T 0.21±0.80.Testicular volume had the positive association with the level of T(r=0.197, P=0.003).BMI had the negative association with the serum concentration of T(r=-0.284, P=0.000), while positive association with the E2(r=0.174, P=0.009)and ratio of E2/T(r=0.323, P=0.000).Age had no association with T, E2, and E2/T(P>0.05), but had negative association with the serum concentration of LH(r=-0.154, P=0.02)nd FSH(r=-0.196,P=0.03).The higher education group were older(P<0.01), while the level of T were lower(P<0.01).Conclusion In patients with Klinefelter′s syndrome(KS; 47,XXY), level of T may associate with testicular volume.T, E2, and the ratio of E2/T seem to associate with their height, BMI, and education level.

Síndrome de Klinefelter en las distintas edades: experiencia multicéntrica / Klinefelter Syndrome at differents ages: multicentric experience

El Síndrome de Klinefelter (SK) es la anormalidad cromosómica más frecuente en los varones, con una prevalencia estimada de 1:600 recién nacidos. El objetivo de este trabajo fue establecer las distintas características de presentación del SK a distintas edades, incluyendo signos y síntomas clínicos, parámetros de laboratorio y otros exámenes complementarios. La franja etaria más frecuente de diagnóstico de SK fue entre los 11 y 20 años (46,8%). En 4 casos el diagnóstico fue prenatal. Los motivos de consulta más frecuentes en forma global fueron la presencia de testículos pequeños, infertilidad y criptorquidia. El cariotipo más prevalente fue el clásico 47,XXY (83,7%), seguido del mosaico 47,XXY/46,XY (7,1%). El promedio de talla de nuestros pacientes prepuberales no mostró diferencia con la población general. Por otro lado, los pacientes puberales presentaron un promedio de talla significativamente más alto, hallándose alrededor de 1 SDS. Hubo correlación entre la edad y el SDS de talla. La media de talla de los adultos fue 178,8 ± 9,0 cm; se observó un 62,5% de sobrepeso/obesidad (IMC ≥ 25,0 kg/m²). El 50% de nuestros pacientes con SK menores de 18 años presentaron trastornos neurocognitivos. El hallazgo clínico más frecuente entre los pacientes prepuberales fue la criptorquidia. En los puberales las consultas y hallazgos clínicos más frecuentes fueron: testículos pequeños, criptorquidia y ginecomastia. Todos nuestros pacientes en estadio de Tanner igual o mayor de III presentaron testículos más pequeños para su grado de desarrollo. Los valores de FSH y LH fueron normales en los pacientes prepuberales y comenzaron a aumentar en la pubertad. Los adultos consultaron más frecuentemente por hipotrofia testicular, infertilidad y en menor grado ginecomastia. Todos los pacientes presentaron testículos hipotróficos, con una mediana de volumen testicular de 3,5 (1-8) ml. El 56,4% presentaron función sexual normal; el resto tuvo algún tipo de disfunción sexual. La testosterona total (TT) fue normal en 45% de los pacientes, con descenso consistente con la edad, donde todos los pacientes mayores de 40 años presentaron TT subnormal. El 10,7% de los pacientes que efectuaron espermograma tuvo oligospermia severa, el resto presentó azoospermia. La densitometría ósea fue anormal en el 46,4% de los adultos estudiados. Sin embargo, no hubo diferencias significativas en la prevalencia de osteopenia y osteoporosis entre los pacientes con TT normal o subnormal.

Klinefelter syndrome (KS) is the most common chromosomal aberration among men, with an estimated prevalence of 1:600 newborns. It is an X chromosome polysomy, with X disomy being the most common variant (47,XXY). The aim of this study was to establish the characteristics of KS presentation at different ages, including signs and symptoms, laboratory parameters and other diagnostic tests. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. While mean prepubertal height was not different from the control population, it was significantly higher at puberty. Patients consulted most frequently for small testes, infertility and cryptorchidism. In four cases the diagnosis was prenatal. 50% of our patients younger than 18 years presented neurocognitive disorders. The more frequent clinical findings were cryptorchidism in prepubertal patients; small testes, cryptorchidism and gynecomastia in pubertal patients. All our patients in Tanner stage III or more presented small testes. FSH and LH levels were normal in prepubertal patients and increased abnormally at puberty. On the other hand, most adults consulted for small testes, infertility and gynecomastia. 43.6% of patients had decreased libido, sexual and/or ejaculatory dysfunction. In adults average height (178.8 ± 9.0 cm) and weight (83.6 ± 21.0 kg), were higher than in the normal population, however 8 patients (19%) had a height less tan 170 cm. There was 62.5% of overweight / obesity (BMI ≥ 25.0 kg/m²) in the whole group of adult patients. 35.2% had eunuchoid proportions. All patients had testicular hypotrophc, with a median testicular volume of 3.5 ml (range 1-8 ml). Total testosterone (TT) levels were normal in 45% of adult patients, showing significant correlation with age. All patients aged 40 or more years had subnormal TT levels. In patients who underwent semen analysis, severe oligospermia and azoospermia were found in 10.7% and 89.3% respectively. Bone mineral densitometry showed low bone mass in 46.4% of cases. No significant differences in the prevalence of osteopenia and osteoporosis were observed among patients with normal or subnormal TT.

CORRELATION BETWEEN TESTICULAR VOLUME AND SEX HORMONE AND THE ULTRASTRUCTURAL STUDY OF THE TESTICULAR TISSUE IN KLINEFELTER SYNDROME / 解剖学报

Objective To investigate the correlation between testicular volume and sex hormone and the pathogenesis of male sterility in Klinefelter syndrome.Methods The sex hormones of the Klinefelter syndrome group(n=20) and control group(n=10) were determined by radioimmunassay.The biopsy of testicular tissues were pathologically sectioned and ultra-thin sections were examined by electron-microscopy.Results There was a significant deference(P

A case of true hermaphroditism with 46, XX/47, XXX karyotype / 대한비뇨기과학회지

True hermaphroditism is characterized by the coexistence of testicular and ovarian tissue. Authors experienced a case of true hermaphroditism which was confirmed an ovary in the left abdomen and testis in the right scrotum with a karyotype of 46, XX,47, XXY and report this case with the brief review of literatures.