Primary amenorrhea Etiology 2)Hypergonadotropic hypogonadism (高促性腺激素性性腺功能减退) →(1) Congenital gonadal dysgenesis(先天性性腺发育不全综 合征) Turner' s syndrome(特纳综合征) Karyotype:45,X0(60%)45,XO46,XX;45,XO/47, XXⅩ FSH&LH↑ Estrogens Manifestations: Female phenotype but poorly developed sex organs, short stature, webbed neck, mentally retarded
Etiology 2) Hypergonadotropic hypogonadism (高促性腺激素性性腺功能减退) (1) Congenital gonadal dysgenesis (先天性性腺发育不全综 合征） Turner’s syndrome (特纳综合征) Karyotype: 45, XO (60%); 45, XO/46, XX; 45, XO/47, XXX. FSH&LH ↑Estrogens↓ Manifestations: Female phenotype but poorly developed sex organs, short stature, webbed neck, mentally retarded Primary amenorrhea
凶无法显示该图片
Primary amenorrhea Etiology (2)46, XX pure gonadal dysgenesis (46,XX单纯性腺发育不全) Streak gonad(条索状性腺)
Etiology (2) 46, XX pure gonadal dysgenesis (46, XX单纯性腺发育不全） Streak gonad (条索状性腺) Primary amenorrhea
Primary amenorrhea (3)46, XY pure gonadal dysgenesis/Swyer syndrome (46,XY单纯性腺发育不全 Testis development→ Testosterone&MIF↓ a) Testosterone- Development of mesonephric duct i Male reproductive tract I b)MF↓→ Development of paramesonephric duct Development of female reproductive tract Manifestations: Female phenotype, gonadotropins T& e estrogens l, not well-developed sex organs streak gonad(条索状性腺) containing Leydig cells
(3) 46, XY pure gonadal dysgenesis /Swyer syndrome (46, XY单纯性腺发育不全） Testis development↓→ Testosterone ↓ & MIF ↓ a) Testosterone ↓ → Development of mesonephric duct ↓ → Male reproductive tract ↓ b) MIF ↓ → Development of paramesonephric duct → Development of female reproductive tract Manifestations: Female phenotype, gonadotropins ↑& estrogens ↓, not well-developed sex organs, streak gonad (条索状性腺) containing Leydig cells Primary amenorrhea
Diagnosis of primary amenorrhea 1 /3 chromosomal abnormalities Karyotyping(核型分析 46. XY: testicular feminization pure gonadal dysgenesIs For 46, XX with normal pelvic examination Progestin withdrawal test and FSh No bleeding, FSH T: Gonadal dysgenesis, ovarian failure → No bleeding,FSH↓/→: Hypogonadotropic hypogonadism Central nervous system tumor or trauma Bleeding: Congenital adrenogenital syndrome Feminizing ovarian tumor
1/3 chromosomal abnormalities Karyotyping (核型分析) 46, XY: testicular feminization pure gonadal dysgenesis For 46, XX with normal pelvic examination Progestin withdrawal test and FSH No bleeding, FSH ↑: Gonadal dysgenesis, ovarian failure No bleeding, FSH ↓ /→ : Hypogonadotripic hypogonadism Central nervous system tumor or trauma Bleeding: Congenital adrenogenital syndrome Feminizing ovarian tumor Diagnosis of primary amenorrhea