Webtext：性分化疾患の診断と治療 - jspe.umin.jp

1 1 webtext 2 2006 (Lawson-Wilkins Pediatric Endocrine Society (LWPES: Pediatric Endocrine Society)) European Society for Pediatric Endocrinology (ESPE) Disorders of sex development; Difference of sex development (Consensus guideline)

2 2008 / 3 Web 4 1.

3 2. 3. 4. 5. dimple 6. 1. 2. 5 Disorders of sex development: DSD 4,500 1 2006 1) 2) DSD 46,XY DSD 46,XX DSD ovotesticular DSD XX sex reversal XX male 46,XX testicular DSD XY sex reversal XY female 46,XY complete gonadal dysgenesis 1 2-4)

4 Turner 2,000 2,500 1 Klinefelter 500 1,000 1 46,XY DSD 46,XX DSD 6 5) 46,XY DSD 46,XX DSD ovotesticular DSD 20 46,XY 30% 1 2-4 Sex chromosomal DSD A 45,X Turner B 47,XXY Klinefelter C 45,X/46,XY ovotesticular DSD D 46,XX/46,XY ovotesticular DSD 46,XY 46,XY DSD A 1.

5 Swyer 2. 3. 4. ovotesticular DSD B 1. 17 -HSD 5 - 2. 3. LH Leydig 4. AMH AMH M ller 7 5. Smith-Lemli-Opitz C 46,XX 46,XX DSD A 1. ovotesticular DSD 2. Testicular DSD SRY SOX9 3. B 1. 21- 11 - POR 2. 3. Luteoma C MURCS 46,XY DSD 46,XX DSD A 1.

6 2. Denys-Drash Frasier WAGR B ovotesticular DSD C Kallmann GnRH SF1 DAX1 8 1. Hughes IA1, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554-563. 2. 2008; 112: 565-76. 3. 2009: 305-323 4.

7 2014: 140-149. 5. 2002: 13-19. 9 A. 1. Prader 1 1 Quigley 2 2 1 1 Prader 10 2 Quigley 6 7 1

8 11 Anogenital ratio 1) SD 1 cm 6 cm 1 6 cm 3 cm 3 3 4 12 3 3 0-48 13 4 3 0-7 2) 3) 2 3 7 mm 14 2 4 [ SD ] mm 3-6 25-32 3-6 33-36 3-6 3-28 1 2 3 4-6 7-12 3 4)

9 Labial fusion Anogenital ratio Anogenital ratio anus to base of the clitoris, AC anus to fourchette, AF AF/AC 5 [ SD ] 5 labial adhesion 15 5 Anogenital ratio 5) 2. 1 1) 6 1 mL 2) 16 6 6 10 50 90 B.

10 11 10 1 / / SD 1. 17 6 3 mL SD 7 14 2. / / Tanner 8 3 7 SD 7 7 15 3 / Tanner I II III IV V 18 7 / Tanner 8 3.