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세브란스어린이병원개원기념 어린이질환심포지움 사춘기조발증환아에서성인신장치를증가시키기위한효과적인치료 세브란스어린이병원소아과김덕희

여자 8세 9세 10세성조숙증성조발증정상발달 (Sexual Precocity) 남자 9세 10세 11세 성조숙증 성조발증 정상발달 (Early puberty, Advanced puberty)

이하영 2 년 2 개월 McCune-Albright syndrome

순 서 1. 정상사춘기발달과정 2. 성조숙증에서성장상태및치료 3. 사춘기조발증에서성장상태및치료효과 4. 특발성저신장증에서 GnRHa 치료효과

정상적성장 1) 제 1 발육급진기 : 출생 ~ 2 세 2) 제 2 발육급진기 : 사춘기 ~ 15-16 세

성장단계분류 유아기 - 급성장기 (1-2 세 ) 38cm( 성인신장 25%) 성장영양상태의존성장. 소아기 - 성장기 (3-12 세 ) 성장호르몬의존성장. 사춘기 - 제 2 급성장기 (13-16 세 ) 남자 28cm, 여자 21cm( 성인신장의 18%) 성장 성장호르몬 + 성호르몬의존성장 성장촉진과성장제한을시키는시기. 성인기 성장멈춤기 (16 세이후 )

Intrinsic restraint concept of Puberty

SMR 1: Prepubertal stage 2 : Breast bud stage 3 : Further enlargement elevation of breast& areola with no seperation. 4. Projection of areola & papilla to form a 2ndary mound above the breast. 5. Mature stage, projection of papilla. SMR 1: Prepubertal stage 2: Enlargement of scrotum & testes.little or no change of P 3. Enlagement of penis,length 4. Increase size of penis with growth in breadth and develop of glans. Scrotal skin darkened 5. Adult sized and shaped genitalia

성장이거의끝난시기 여자에서 연령이 14-15 세인경우 골연령이 14-15 세인경우 초경이있은후 2 년이된경우 남자에서 연령이 16-17 세인경우 골연령이 16-17 세인경우 겨드랑이털이많이난경우

BONE AGE (left hand) 6세 8세 10세 11.5세 14 세 6 세 8 세 10 세 11.5 세 14 세

13 년 8 개월 Kleinefelter 증후군 32 세범뇌하수체기능저하증후군

성인신장치예상 표적신장치 (Target of height) 남아 : 부모키평균 + 6.5cm, 여아 : 부모키평균 -6.5cm Bailey- Pinneau method- 골연령만고려 Tanner-White method 골연령, 역연령, 신장치고려 Roche-Wainer-Thissen method TW에부모신장치 Tannaka 1996-6세때신장, 체중및사춘기시작연령과신장치

KIGS/KIMS Link

Table 1. Spectrum of conditions with isosexual precocity in girls From: Lebrethon: Curr Opin Pediatr, Volume 12(4).August 2000.394-399

LH u/l 18-14- 10-8- 4-0- 10- CPP 8-6 - Prepubertal FSH u/l 4-2 - Prepubertal 0- I I 0 I 20 min I I 0 20 min Off GnRha LH/FSH < 1.0 Prepubertal type LH/FSH >1.0 Pubertal type 의료뵤혐급여기준

Etiology of Sexual Precocity 1. Idiopathic 2. Central lesion A. Tumors Chiasmatic/hypothalamic glioma Pineal tumors Astrocytoma Ependymoma Hypothalamic hamartoma Pituitary adenoma C. Acquired lesions After CNS surgery or irradiation Trauma After meningitis or encephalitis B. Developmental anomalies Hydrocephalus Microcephaly Neurofibromatosis Arachnoid cysts 3. Peripheral lesion- McCune-Albright synd, Cong. Adrenal Hyperplasia Granulosa theca cell tumor, Testicular tumors 4. Mixed

i o n a n d e v o l u t i o n o f o r g a n i c c e n t r a l p r e c o c i o u s p u b

170 - Target Ht PAH Final Ht 160-150 - 140 - Klein 01 Arrigo 99 Carel99 Heger99 Galluzi98 Berten98 Leger00 N=80 N=71 N= 58 N=50 N=22 N=14 N=9 Fig. Adult height in girls treated with GnRHa for precocious puberty

E2 level response to DECAPEPTYL depot Couzinet et al. 1986

LH response to DECAPEPTYL depot Jacobi et al. 1987

Fig. Comparison of adult height in treated girls with central precocious puberty with age-matched controls.

Randomised trial of GnRHa treatment on final height in girls with onset of Puberty aged 7.5-8.5 yrs. Arch Dis Child 1999;81:329 Group 1. Triptorelin depot 3.75mg q 4 week for 23 mo(12-40), stop therapy observe 33 mo(16-69) till finial height Group 2. No treatment. Initial evaluation Group 1 Group 2 Number 23 21 Chronogical age(yrs) 8.5 ± 0.6 8.4 ± 0.5 Bone Age(yrs) 10.6 ± 0.8 10.3 ± 0.6 Height(cm) 134.9 ± 6.8 135.5 ± 5.9 Target HT(cm) 158.0 ± 7.6 158.8 ± 3.9 Final evaluation Fianl height 158.1 ± 6.2 158.6 ± 6.0 Conclusion : lack of effect of GnRHa therapy after 7.5 yrs old with puberty

J clin Endocriol Metab 1999;84:3575

Results of several trials of GnRHa in 8-10 yrs old girls with advanced puberty Kletter Brauner Kaul Current study N 114 10 7 2 0 Age at onset of Puberty 8 8.5 8.6 9.3 Age at start of treatment 8.5 8.8 9.4 9.5 Bone age(yr) 11.2 11.2 12.4 10.9 Predicted height(cm) 153.4 147.1 154.1 Target height(cm) 161.4 159.1 157.1 Final height (cm) 157.5 157.4 150.3 157.6 Treatment T T T T Duration of therapy(yr) 3.6 3.1 2.1 2 T: Triptorelin IM Conclusion : lack of effect of GnRHa on final height starting advanced puberty

Inclusion criteria for Early puberty 1) B2 8-9 yrs 2) fast transition(1.3 yr) 3) recent accleration of growth and BA 4) Before <9.5 yrs old, LH >7mU/l to GnRH, uterus and ovary size 63 treated GnRHa 3.75mg q 4 week, D: 2-4 yr Off criteria CA 11-12,BA 12-12.5yr, GV <4.0cm/yr 63 untreated Treated group Untreated group During therapy Δ Ht(cm/ yr) 4.72 ± 0.95 8.15 ± 2.85 Δ BA(yr) 0.57 ± 0.24 1.4 ± 0.55 BMI(kg/m2) 0.93 ± 0.73 0.83 ± 1.2 D of puberty(yr) 4.7 ± 0.4 2.45 ± 0.4 Menarche (yr) 12.8 ± 0.6 10.8 ± 0.5 TH (cm) 157.26 ±6.16 157.96 ± 5.29 FH(cm) 157.26 ± 6.16 156.66 ± 5.70

신장 BMI Lazar, L. et al. J Clin Endocrinol Metab 2002;87:2090-2094 Copyright 2002 The Endocrine Society

Conclusion : 1. Treating girl with EFP is not justified, esp in final height 2. These girls may benefit from appropriate emotional maturity can adjust more easily to sexual maturity.

Predicted adult height before treatment of GnRHa treated and untreated Children with either precocious or early puberty. J Ped End & Metab 2004,17:759 Precocious Puberty Predicted adult height Final height Target height Treated children 153.6 ± 1.3 162.6 ± 4.7* 157.4 ± 4.5 Untreated children 166.6 ± 7.3 168.5 ± 9.9 164.5 ± 8.7 cm Early Puberty Treated children 153.1 ± 1.8 159.5 ± 4.7** 158.3 ± 4.0 Untreated children 162.5 ± 5.5 163.8 ± 7.9 160.1 ± 7.9 * p<0.01. PAH vs FH in PP, ** p<0.05. PAH vs FH in EP

Two studies for short girls with early puberty to GnRHa alone or GnRHa +GH Acta Ped 1999;88:928-932 Clin Endo 2001;55:121-129 Final Height in GnRHa + GH treated group 2.7 to 4.5cm taller than GnRHa alone group

Psychosocial aspects of Early puberty Concerning physical differences- withdrawal, depression, internalizing disorders Group menarche before 11 yrs, At age 10 less concentration in school At age 13 to 15 rule breaking at home and school antisocial behavior(taking drug,drinking) normal IQ but school performance sexual debut and 14% abortion hx by age 16 yr At age 25 and 43- no difference in marital status lower educational level and status occupations

Conclusion : To treat or not to treat idiopathic early puberty Girls with puberty before age 6 will benefit from GnRHa treatment in terms of final stature and psychological area Girls with puberty before age 6 and 8 yrs of age will probably benefit in terms of final stature and psychological area Girls with puberty before age 9 will benefit in terms of psychological area. lacking study for boys with precocious puberty

성조숙증혹은조기사춘기발달에서성호르몬억제제투여 조숙증으로조기에성장판이닫혀져성인신장치가작아진다. Yanoski 연구보고 (NEJM 2003) - 성호르몬억제제를평균 3.5 년투여군에서투여치않는군에비해 7.0cm 많이성장되였다. 치료전예상치에비해 4.2cm 성장되였다. - 성호르몬억제제 + 성장호르몬제제로더욱성장된다.

Group A(12): GnRHa only, Group B(14): GnRHa + GH for 3 yrs

Metformin treatment to prevent early puberty in girls with precocious pubarche JCEM 2006;91:2888-91 Obese girls and low birth weight(lbw) girls with early-normal onset puberty (B2 at 8-9 yr) usually have hyperinsulinemia and hyperlepinemia. Metformin therapy delay in the clinical onset of puberty,ultimately may heighten the short adult stature of LBW-precocious pubarche girls.

FIG. 1., PAH at start of GnRHa;, target height;, final height. *, P < 0.05 final height of patients treated with GnRHa plus Ox vs. their PAH and target height; &, < 0.05 final height of patients treated with GnRH alone vs. their target height

CA 10.2 ± 0.9 yrs, BA 10.6 ± 1.9 yr, GnRHa 100 ug/kg q 3 wk,gh 0.3mg/kg/wk

Possible disadvantages of GnRHa Local reactions(3-20%) Vaginal bleeding at onset,some weight gain Lower bone mineralization Psychosocial effects after 3 years, at FH no difference between groups and with references Economical consequences

Human GH and GnRHa combination therapy increases predicted height In short normal girls. Clin Ped 2003;42:59-64

Relevant questions to be addressed before initiation of GnRHa therapy in CPP Age at occurrence of pubertal development consistent with precocious or borderline early puberty Clinical,ultrasound, and hormonal findings consistent with of evolving or slow variant form of sexual precocity? Predict adult height within or below target height range? Changes in pubertal development,growth, and predict adult height during a follow up of 6-12 months? At borderline ages, remaining psychological problems? Lebrethon 등 Curr Opinion in Ped 2000;12:394-399

감사합니다.