A 16-year-old girl was administered to our hospital because of primary amenorrhea and solid pelvic mass. She was 158 cm tall and weighed 55 kg. There was no evidence ofacanthosis nigricans, acne, hirsutism, goiter, cu...A 16-year-old girl was administered to our hospital because of primary amenorrhea and solid pelvic mass. She was 158 cm tall and weighed 55 kg. There was no evidence ofacanthosis nigricans, acne, hirsutism, goiter, cushingoid features, or Turners stigmata. Examination of secondary sexual characteristics revealed that the breast was small and poorly developed （Tanner＇s Stage II）. Pubic hair was absent while the external genitalia was of female type and had no evidence of clitoromegaly. Ultrasonography of the pelvis showed a solid mass diameter about 9 cm in right adnexal area, a normal uterus with endometrium of 3 ram, and left ovary 1.5 cm x1.0 cm. Her serum hormonal assay revealed a low estradiol level of 0.155 nmol/L （normal range： 0.200-0.790 nmol/L in follicular phase） in the background of elevated luteinizing hormone level of 25.47 U/L （normal range： 2.12-10.89 U/L in follicular phase）, follicle-stimulating hormone level of 51.36 U/L （normal range： 3.85-8.78 U/L in follicular phase）, and testosterone level of 3.97 nmol/L （normal range： 0.35-2.60 nmol/L）. She was found to have normal progesterone level of 3.77 nmol/L （0.98-4.83 nmol/L in follicular phase） and serum prolactin level of 12.47 ng/ml （3.34-26.72 ng/ml）.展开更多
BACKGROUND Turner syndrome(TS)has a variety of different karyotypes,with a wide range of phenotypic features,but the specific karyotype may not always predict the phenotype.TS with Y chromosome mosaicism may have mixe...BACKGROUND Turner syndrome(TS)has a variety of different karyotypes,with a wide range of phenotypic features,but the specific karyotype may not always predict the phenotype.TS with Y chromosome mosaicism may have mixed gonadal dysgenesis,and the mosaicism is related to the potential for gonadoblastoma.CASE SUMMARY In this case report,we report two cases of TS with different karyotypes and gonadal dysgenesis.Patient 1 had obvious virilization,and was positive for the SRY gene,but her karyotype in peripheral blood lymphocytes was 45X.Patient 2 had a mosaic karyotype,45X/46X,dic(Y:Y)(p11.3:p11.2),and the proportion of Y-bearing cells was 50%in peripheral blood lymphocytes,but the patient had normal female external genitalia and streaky gonads,with no genital virilism.Different tissues in the same TS individual may exhibit different ratios of mosaicism.The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads.CONCLUSION In TS patients with virilization,it is necessary to test at least two to three tissues to search for cryptic Y material.展开更多
Some of the conditions long blamed for female factor infertility are now acknowledged as well established risk factors of gynecological neoplasia. This realization has lead to the proposition that infertility might be...Some of the conditions long blamed for female factor infertility are now acknowledged as well established risk factors of gynecological neoplasia. This realization has lead to the proposition that infertility might be a risk factor for the development of several types of gynecological neoplasms. This review addresses different conditions that play a role in both infertility and gynaecological neoplasia. An intricate interplay between growth factors and hormonal factors(estrogens and progestins, androgens and gonadotropins) is said to link the state of infertility to some gynecological tumors. The relation between endometriosis-as one of the well established causes of female infertility- and ovarian cancer is well known. Endometriosis has been particularly related to endometrioid and clear-cell ovarian carcinomas. Another evidence for this association is embodied in finding endometriotic lesions adjacent to ovarian cancers. The polycystic ovary syndrome(PCOS), one of the most prevalent endocrine disorders and a long studied cause of female infertility increases the risk of endometrial carcinoma. The link between PCOS and endometrial carcinoma seems to be endometrial hyperplasia. PCOS-associated endometrial carcinoma tends to present at a younger age and early stage, with lower grade and lower risk of metastasis. Turner's syndrome and other types of ovarian dysgenesis constitutea rare cause of infertility and are known to confer a definite risk of germ cell tumors. There seems to be a link between infertility and an increased risk of gynecological neoplasia. Hence, it is important to assess the risk of malignancy in each category of infertile patients so as to provide optimal and timely intervention.展开更多
文摘A 16-year-old girl was administered to our hospital because of primary amenorrhea and solid pelvic mass. She was 158 cm tall and weighed 55 kg. There was no evidence ofacanthosis nigricans, acne, hirsutism, goiter, cushingoid features, or Turners stigmata. Examination of secondary sexual characteristics revealed that the breast was small and poorly developed （Tanner＇s Stage II）. Pubic hair was absent while the external genitalia was of female type and had no evidence of clitoromegaly. Ultrasonography of the pelvis showed a solid mass diameter about 9 cm in right adnexal area, a normal uterus with endometrium of 3 ram, and left ovary 1.5 cm x1.0 cm. Her serum hormonal assay revealed a low estradiol level of 0.155 nmol/L （normal range： 0.200-0.790 nmol/L in follicular phase） in the background of elevated luteinizing hormone level of 25.47 U/L （normal range： 2.12-10.89 U/L in follicular phase）, follicle-stimulating hormone level of 51.36 U/L （normal range： 3.85-8.78 U/L in follicular phase）, and testosterone level of 3.97 nmol/L （normal range： 0.35-2.60 nmol/L）. She was found to have normal progesterone level of 3.77 nmol/L （0.98-4.83 nmol/L in follicular phase） and serum prolactin level of 12.47 ng/ml （3.34-26.72 ng/ml）.
文摘BACKGROUND Turner syndrome(TS)has a variety of different karyotypes,with a wide range of phenotypic features,but the specific karyotype may not always predict the phenotype.TS with Y chromosome mosaicism may have mixed gonadal dysgenesis,and the mosaicism is related to the potential for gonadoblastoma.CASE SUMMARY In this case report,we report two cases of TS with different karyotypes and gonadal dysgenesis.Patient 1 had obvious virilization,and was positive for the SRY gene,but her karyotype in peripheral blood lymphocytes was 45X.Patient 2 had a mosaic karyotype,45X/46X,dic(Y:Y)(p11.3:p11.2),and the proportion of Y-bearing cells was 50%in peripheral blood lymphocytes,but the patient had normal female external genitalia and streaky gonads,with no genital virilism.Different tissues in the same TS individual may exhibit different ratios of mosaicism.The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads.CONCLUSION In TS patients with virilization,it is necessary to test at least two to three tissues to search for cryptic Y material.
文摘Some of the conditions long blamed for female factor infertility are now acknowledged as well established risk factors of gynecological neoplasia. This realization has lead to the proposition that infertility might be a risk factor for the development of several types of gynecological neoplasms. This review addresses different conditions that play a role in both infertility and gynaecological neoplasia. An intricate interplay between growth factors and hormonal factors(estrogens and progestins, androgens and gonadotropins) is said to link the state of infertility to some gynecological tumors. The relation between endometriosis-as one of the well established causes of female infertility- and ovarian cancer is well known. Endometriosis has been particularly related to endometrioid and clear-cell ovarian carcinomas. Another evidence for this association is embodied in finding endometriotic lesions adjacent to ovarian cancers. The polycystic ovary syndrome(PCOS), one of the most prevalent endocrine disorders and a long studied cause of female infertility increases the risk of endometrial carcinoma. The link between PCOS and endometrial carcinoma seems to be endometrial hyperplasia. PCOS-associated endometrial carcinoma tends to present at a younger age and early stage, with lower grade and lower risk of metastasis. Turner's syndrome and other types of ovarian dysgenesis constitutea rare cause of infertility and are known to confer a definite risk of germ cell tumors. There seems to be a link between infertility and an increased risk of gynecological neoplasia. Hence, it is important to assess the risk of malignancy in each category of infertile patients so as to provide optimal and timely intervention.
