Swyer综合征是一种较为罕见的性腺发育异常疾病(disorders of sex development,DSD)^([1])。患者通常无正常性腺结构而表现为条索状性腺,在此基础上容易发生生殖细胞肿瘤,以性腺母细胞瘤最为常见,其被认为是一种原始生殖细胞肿瘤,是无...Swyer综合征是一种较为罕见的性腺发育异常疾病(disorders of sex development,DSD)^([1])。患者通常无正常性腺结构而表现为条索状性腺,在此基础上容易发生生殖细胞肿瘤,以性腺母细胞瘤最为常见,其被认为是一种原始生殖细胞肿瘤,是无性细胞瘤、绒毛膜癌等多种恶性生殖细胞肿瘤的前体^([2-3])。展开更多
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
文摘Swyer综合征是一种较为罕见的性腺发育异常疾病(disorders of sex development,DSD)^([1])。患者通常无正常性腺结构而表现为条索状性腺,在此基础上容易发生生殖细胞肿瘤,以性腺母细胞瘤最为常见,其被认为是一种原始生殖细胞肿瘤,是无性细胞瘤、绒毛膜癌等多种恶性生殖细胞肿瘤的前体^([2-3])。
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）.
