Primary amenorrhea Etiology e 2)Androgen insensitivity syndrome (雄激素不敏感综合征) Testicular feminization(睾丸女性化) (1) Karyotype: 46, XY (2) Presence of testis with normal production of Es ts No androgen receptors in target end-organs ()Presence of secondary sex characteristics (incomplete) (4) No vagina and uterus
Primary amenorrhea Etiology 2) Androgen insensitivity syndrome (雄激素不敏感综合征) Testicular feminization (睾丸女性化) (1) Karyotype: 46, XY (2) Presence of testis with normal production of Es & Ts No androgen receptors in target end-organs (3) Presence of secondary sex characteristics (incomplete) (4) No vagina and uterus
(2)23岁,社会性别女,核型 X小体(一),Y小体(+),表型为女态,乳房 丰满、腋毛少,阴毛如女性分布,大小阴唇发育 正常,上方可扪及睾丸,左4×2.5,右2.5x 上下移动;阴蒂长2cm,尿道口下移, 阴道长4cm,頂为盲端,精膜柔钬,未扪及 、子宫及瘕迹器官,17羟固醇56mg/24h 17粥5.3mg/24h.属睾丸女性化综合征、行睾 切除术及阴道成形术后保持女性身
Primary amenorrhea Etiology 3) Savage syndrome(对抗性卵巢综合征) Resistant ovary syndrome(卵巢不敏感综合征) 1)Karyotype: 46, XX (2) Presence of ovary with primordial and primary follicles ()No gonadotropin receptors (4)FSH↑ (5)Near normal secondary sex characteristics
Primary amenorrhea Etiology 3) Savage syndrome (对抗性卵巢综合征) Resistant ovary syndrome (卵巢不敏感综合征) (1) Karyotype: 46, XX (2) Presence of ovary with primordial and primary follicles (3) No gonadotropin receptors (4) FSH ↑ (5) Near normal secondary sex characteristics
Primary amenorrhea Etiology Congenital abnormalities in the lower reproductive tract (1) Imperforate hymen(处女膜闭锁) (2 Transverse vaginal septum(阴道横隔) (3)Absence of lower 1/3 vagina
Etiology 4) Congenital abnormalities in the lower reproductive tract (1) Imperforate hymen (处女膜闭锁) (2)Transverse vaginal septum (阴道横隔) (3)Absence of lower 1/3 vagina Primary amenorrhea
Primary amenorrhea Etiology e 2. Abscence of secondary sex characteristics 1)Hypogonadotropic hypogonadism (低促性腺激素性性腺功能减退) Kallmann's syndrome(嗅觉缺失综合征) Congenital absence of gnRH secretion accompanied by anosmia(嗅觉丧失) or hyposmia(嗅觉减退) (1) Karyotype: 46, XX 2)Normal differentiation of internal sex organs (3) No secondary sex characteristics
Etiology 2. Abscence of secondary sex characteristics 1) Hypogonadotropic hypogonadism (低促性腺激素性性腺功能减退) Kallmann’s syndrome (嗅觉缺失综合征） Congenital absence of GnRH secretion accompanied by anosmia （嗅觉丧失）or hyposmia（嗅觉减退） (1) Karyotype: 46, XX (2) Normal differentiation of internal sex organs (3) No secondary sex characteristics Primary amenorrhea