Cytogenetic studies in primary amenorrhea]

Cytogenetic analysis in 125 women with primary amenorrhea consisting of determinations of sex chromatin and karyotype, and in some cases of autoradiography were performed. On the basis of clinical, endocrinologic and cytogenetic criteria, the women were divided into ten clinical groups. In Turner's syndrome 45,X monosomie was observed only in 9 patients and in the remaining 12 cases varies types of mosaicism or of structural aberrations of the X chromosome. In pure gonadal dysgenesis, the patients exhibited 46,XY karyotype have the tendency to malign tumors of the gonads. In all cases with male pseudohermaphroditism the karyotypes 46,XY were observed. The remaining patients with primary amenorrhea exhibited 46,XX karyotype and belonged to the cases with Mayer-Rokitansky-Kustner syndrome, with adrenogenital syndrome, with hypoplasia of the ovaries, with primary amenorrhea of uterine or pituitary origin or at last with pubertas tarda.     

Cytogenetic studies in primary amenorrhea

Cytogenetic studies in 48 cases of primary amenorrhea are reported. The following abnormalities were analyzed: 3 cases of Turner's syndrome, 3 cases of Turner's mosaicism, 3 cases of feminizing testes, 2 cases of incomplete testicular feminization syndrome of Morris and Mahesh, 7 cases of Mullerian agenesis with absent vagina and functioning ovaries, 13 cases of gonadal dysgenesis with streak gonads, 1 case of pure gonadal dysgenesis, 2 cases of imperforate hymen with hematocolpos and hematometra, 1 case of tubovarian mass and 1 case of juvenile polycystic ovarian syndrome. It is suggested that management of an patient with primary amenorrhea whose sex karyotype includes an XY cell line should include gonadal excision because of increased risk of neoplasia.     

Cytogenetic studies of endometrial carcinoma

Chromosome counts have been obtained from 22 cases of carcinoma of the endometrium and 4 cases of atypical cystic hyperplasia. The direct squash technique after hypotonic pretreatment was used. A diploid population of 22.2 per cent was present in the cases of endometrial cardinoma which were analyzed. Eighty-eight per cent of these diploid metaphases exhibited a pseudodiploid karyotype. Ninety-three per cent of the total chromosome counts for endometrial carcinoma were in the range of 35 to 56 chromosomes per cell. The diploid population in the 4 cases of atypical hyperplasia was 66 per cent. Two cases were analyzed karyotypically. Normal female karyotypes appeared exclusively in one case. In the second case pseudodiploid karyotypes predominated, and rearrangement within the chromosome groups was evident in hypodiploid cells.     

月经紊乱患者的细胞遗传学分析

目的 分析原发闭经、继发闭经及月经稀发患者的染色体核型,探讨性染色体异常对性腺发育的影响。方法 将176例患者分为两组,其中82例原发闭经组,94例继发闭经及月经稀发组。每例行外周血培养,制片及G显带,并行染色体核型分析。结果 176例患者发现性染色体异常38例,异常检出率为29.6％(38/176),其中原发闭经组33例,异常检出率为40.2％(33/82);继发闭经及月经稀发组检出性染色体异常5例,异常检出率为5.3％(5/94);两组异常检出率差异有显著性(P<0.05)。性染色体异常大体上分为三大类:含Y染色体(15例),X染色体数目异常(18例),X染色体结构异常(5例),嵌合体均以45,X系为主,共10例。结论 两条完整的染色体是女性性腺发育及正常卵巢功能所必须,性染色体异常是原发闭经的主要原因之一,常规细胞遗传学检查是必要的;继发闭经及月经稀发也不应忽视此项检查。     

Cytogenetic studies in patients with reproductive failure

BACKGROUND: Cytogenetic studies in patients with reproductive failure AIM: To investigate the contribution of chromosomal abnormalities in sub fertility and in couples with repeated abortions. METHODS: Hundred and 13 couples who had at least two or more spontaneous abortions and 65 women and 63 men with infertility were analyzed cytogenetically. RESULTS: Major chromosomal rearrangements were found in 8% and minor variants in 6% in the study population. Major chromosomal aberrations were judged to explain 4.9% of recurrent abortions and 13% of infertility. Chromosomal abnormalities in infertile men occurred in 5% and in infertile women in 21.5%. The chromosomal abnormalities were structural (57%), numerical (18%) or mosaics (25%). CONCLUSIONS: Chromosomal aberrations in recurrent abortions are mostly structural ones and those in female infertility mosaicism of sex chromosomes. Turner's syndrome, Turner variants and XY females are detected as a cause of female infertility. The structural and numerical aberrations of either sex or autosomal chromosomes were found in infertile men.     

Cytogenetic studies of spontaneous abortions in humans

Karyotypes were analyzed using directing method for chorionic villi chromosome preparation in 52 specimens from spontaneous abortions. A paralleled cytogenetic study of 51 specimens from induced abortions was carried out. Among 52 specimens from spontaneous abortions, 11 (21%) were chromosomally abnormal and 82% of these were found to have autosomal trisomies (3,14,16,19,20 and 21). Trisomy 16 was the most common abnormality accounting for 44% of trisomic abortuses. A double trisomic abortus with a 48, XX, +16, +20 karyotype was detected. These results showed that chromosome abnormality is an important cause of spontaneous abortion. The relationship between chromosomal abnormalities of spontaneous abortuses and the factors relevant to the abnormalities are discussed.     

Cytogenetic studies in couples with repeated spontaneous abortions

Chromosome studies were carried out on both partners of 509 couples with a history of two or more spontaneous abortions. 1) Twenty-six individuals (2.6%) were carriers of a major chromosome abnormality. This incidence is at least six to seven times higher than that in the general adult population. 2) Of these, 10 were reciprocal translocations, 10 robertsonian translocations and 6 numerical aberrations of gonosomes. None of the carriers showed abnormal phenotypes. 3) Chromosome aberrations were more frequent in the women than in their husbands. There were 19 abnormalities in females and 7 in males. 4) The use of banding techniques in chromosome analysis improves the detection of balanced reciprocal translocations. 5) Prenatal diagnosis was performed in 5 subsequent pregnancies of 4 balanced translocation carriers. The fetal karyotypes were 2 normal and 3 balanced translocations. It would seem reasonable to recommend chromosome analysis for couples with repeated spontaneous abortions.     

Cytogenetic and clinicopathologic studies of partial moles

Fifty-six partial moles from 55 patients were karyotyped and analyzed clinicopathologically. Forty-seven were triploid and nine diploid. Triploid partial moles were characterized histologically by focal mild-to-moderate trophoblastic hyperplasia with stromal trophoblastic inclusion. Diploid partial moles lacked marked trophoblastic hyperplasia and stromal trophoblastic inclusions. Four of the nine diploid moles were analyzed for chromosome heteromorphisms, enzyme polymorphisms, and histocompatibility leukocyte antigen specificities to determine their origin, and two were found to be normal. In the follow-up study, none of the partial moles developed into invasive mole or choriocarcinoma. These results indicate that most partial moles are triploid but a minority are normal diploid; regardless of the karyotype, however, partial moles do not have a high propensity for malignancy.     

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Purpose

In this study we aimed to evaluate the postnatally screened karyotype results in couples who were referred because of primary infertility between 2000 and 2006 in Izmir.

Methods

The records of a total of 179 cases were evaluated retrospectively.

Results

A total of 21 cases (11.74%) showed chromosomal alteration. Thirteen (7.26%) were 47,XXY; three (1.68%) were pericentric inversion of chromosome 9; one (0.56%) 46,XY/45,XO; one (0.56%) 46,XY/47,XXY/48,XXXY; one (0.56%) 46,XY,t(X;1); one (0.56%) 46,XY/46,XY,del(Y)(q11.2) and one (0.56%) 46,XX.

Conclusions

The rate of gonosomal chromosomal abnormalities was nearly three times higher in our region than the rate in the literature. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems.     

维生素D与男性不育关系的研究进展

维生素D(vitamin D,VD)作为一类常见的营养元素,不仅在调节钙稳态和骨骼健康方面具有明确的作用,近年来有研究表明其与男性生殖可能存在密切关系。本文通过阐述VD的代谢、VD与男性性激素、精子质量以及妊娠结局的关系,以进一步说明VD对男性生育力的重要影响。了解VD对男性生殖的影响及其机制可为临床诊疗提供新的思路和方法。