Transcription of Webtext：性分化疾患の診断と治療 - UMIN
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) 2008 / 3 Web
2 4 1. 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) Turner 2,000 2,500 1 Klinefelter 500 1,000 1 46,XY DSD 46,XX DSD 6 5)
3 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. 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.
4 Luteoma C MURCS 46,XY DSD 46,XX DSD A 1. 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.. 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 11 Anogenital ratio 1)
5 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) 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.
6 1 1) 6 1 mL 2) 16 6 6 10 50 90 B. 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.
7 Tanner 9 4 8 SD 10 13 4 Tanner I II III IV V 19 8 Tanner 8 4. 7 15 I II III IV V 20 1. Prader A. Der genitalbefund beim ppseudohermaphroditismus femininus der kengenitalen adrenogenitalen syndroms. Helv Paediatr Acta 1954; 9: 231 248. 2. Quigley CA, et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 1995; 16: 271 321. 3. Ishii T, Matsuo N, Inokuchi M, Hasegawa T. A Cross-Sectional Growth Reference and Chart of Stretched Penile Length for Japanese Boys Aged 0-7 Years. Horm Res Paediatr 2014; 82: 388-393. 4. 1983; 31: 1215-1220.
8 5. Callegari C, Everett S, Ross M, et al. Anogenital ratio: Measure of fetal virilization in premature and full-term newborn infants. J Pediatr 1987; 111: 240-243. 6. Matsuo N, Anzo M, Sato S, et al. Testicular volume in Japanese boys up to the age of 15 years. Eur J Pediatr 2000; 159: 843-845. 7. Matsuo N. Skeletal and sexual maturation in Japanese children. Clin Pediatr Endocrinol 1993; 2 (suppl 1): 1-4. 8. 1976. 9. Tanner JM. Growth at adolescence, 2nd ed. Blackwell Scientific Publications, Oxford, 1955. 10. 2003; 8: 67-69. 21 22 23 24 1.
9 ( ) 25 2) 14 2. ( ) 26 ( ) ( ) 27 DSD 1 Na K LH FSH AMH GnRH hCG hMG 17-OHP ACTH PRA MRI G-banding SRY FISH A.
10 28 Na K Na K Smith-Lemli-Opitz Denys-Drash Frasier B. LH FSH DHT AMH GnRH hCG hMG 17-OHP ACTH PRA ARC T LH FSH T LH FSH 1-3 1 hCG GnRH ECLIA T 2 1) AMH 3 2) AMH 1 2 2) 29 hCG hCG 3,000 /m2 24 3 24 4 T T 150 ng/dL 100 150 ng/dL 100 ng/dL DHT A4 5 - T/DHT 10 17 T/A4 DSD hMG 21- POR 3 - 5 - 30 1 LH FSH T AMH T AMH Grinspon RP et al.
