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소아청소년과 조성윤 교수

진료분야
저신장, 성조숙, 소아비만, 당뇨병, 요붕증, 터너 증후군, 저칼슘혈증, 갑상선질환, 프레더월리증후군, 연골무형성증
진료일정 07 月
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진료일정 08 月
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본원외래 본원클리닉 본원육아상담 암병원외래 암병원클리닉 암병원육아상담
" 아이들의 건강하고 균형있는 성장을 위한
소아내분비질환의 스페셜리스트 "

조성윤 교수는 성조숙증과 저신장증 진료 외에도 희귀 질환의 기전을 밝혀 치료 방법을 찾는 것에 큰 관심을 갖고, 뮤코다당증, 프래더윌리 증후군 등에 대한 연구를 중점적으로 시행하고 있습니다. 지난 여름 국제뮤코다당증학회에서 헌터증후군 연구 발표로 세계 권위자들로부터 주목을 받았고, 해외 의료기관의 의뢰를 받아 연구하는 등 이 분야의 허브 역할을 맡고 있습니다.

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학력

학력
2015.02 성균관대학교 대학원 의학과 (박사)
2012.02 이화여자대학교 대학원 의학과 (석사)
2004.02 이화여자대학교 의과대학 졸업 (의학사)

경력

경력
2018.03 ~현재 성균관대학교 의과대학 소아청소년과 조교수
2017.03 ~ 2018.02 삼성서울병원 소아청소년과 임상조교수
2014.03 ~ 2017.02 삼성서울병원 소아청소년과 진료조교수
2013.03 ~ 2014.03 한양대학교 구리병원 소아청소년과 임상조교수
2010.03 ~ 2013.02 삼성서울병원 소아청소년과 내분비 유전 분야 임상강사
2005.03 ~ 2009.02 이대목동병원 소아과 레지던트 과정 수료
2004.03 ~ 2005.02 이대목동병원 인턴과정 수료
논문
  • SCI REP-UK 2019 10.1038/s41598-019-52644-1 Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency Yang1, A; Cho, SY; Kwak, MJ; Kim, SJ; Park, SW; Jin, DK; Lee, JE
    View PubMed
  • ANN HUM GENET 2019 10.1111/ahg.12298 Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum Yang1, A; Kim, J; Jang, JH; Lee, C; Lee, JE; Cho, SY; Jin, DK
    View PubMed
  • J GLAUCOMA 2019 10.1097/IJG.0000000000001190 Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family Park1, DY; Cho, SY; Jin, DK; Kee, C
    View PubMed
  • AM J HUM GENET 2019 10.1016/j.ajhg.2019.01.009 Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia Chang1, HR; Cho, SY; Lee, JH; Lee, E; Seo, J; Lee, HR; Cavalcanti, DP; Makitie, O; Valta, H; Girisha, KM; Lee, C; Neethukrishna, K; Bhavani, GS; Shukla, A; Nampoothiri, S; Phadkei, SR; Park, MJ; Ikegawa, S; Wang, Z; Higgs, MR; Stewart, GS; Jung, E; Lee, MS; Park, JH; Lee, EA; Kim, H; Myung, K; Jeon, W; Lee, K; Kim, D; Kim, OH; Choi, M; Lee, HW; Kim, Y; Cho, TJ
    View PubMed
  • CLIN DYSMORPHOL 2019 10.1097/MCD.0000000000000241 The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported Fukuhara1, Y; Cho, SY; Miyazaki, O; Hattori, A; Seo, JH; Mashima, R; Kosuga, M; Fukami, M; Jin, DK; Okuyama, T; Nishimura, G
    View PubMed
  • J INHERIT METAB DIS 2018 10.1007/s10545-018-0221-0 The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology Sohn1, YB; Ko, AR; Seong, MR; Lee, S; Kim, MR; Cho, SY; Kim, JS; Sakaguchi, M; Nakazawa, T; Kosuga, M; Seo, JH; Okuyama, T; Jin, DK
    View PubMed
  • ANN CLIN LAB SCI 2018 Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review Choi1, J; Yang, A; Song, A; Lim, M; Kim, J; Jang, JH; Park, KT; Cho, SY; Jin, DK
    View PubMed
  • ANN CLIN LAB SCI 2018 Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy Kwak1, MJ; Lee, HW; Kim, YM; Cho, SY; Park, HD; Jin, DK
    View PubMed
  • MEDICINE 2018 10.1097/MD.0000000000012124 Ptosis in childhood: A clinical sign of several disorders Case series reports and literature review Pavone1, P; Cho, SY; Pratico, AD; Falsaperla, R; Ruggieri, M; Jin, DK
    View PubMed
  • ANN CLIN LAB SCI 2018 First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review Jeong1, HI; Yang, A; Kim, J; Jang, JH; Cho, SY; Jin, DK
    View PubMed
  • J Endocrinol Invest 2018 10.1007/s40618-017-0786-8 Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phase III randomized trial Kim1, J; Suh, BK; Ko, CW; Lee, KH; Shin, CH; Hwang, JS; Kim, HS; Chung, WY; Kim, CJ; Han, HS; Kwon, NY; Cho, SY; Yoo, HW; Jin, DK
    View PubMed
  • BMC MED GENET 2017 10.1186/s12881-017-0484-6 HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report Yang1, A; Kim, J; Ki, CS; Hong, SH; Cho, SY; Jin, DK
    View PubMed
  • CLIN CHIM ACTA 2017 10.1016/j.cca.2017.06.010 Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing Yang1, A; Cho, SY; Jang, JH; Kim, J; Kim, SZ; Lee, BH; Yoo, HW; Jin, DK
    View PubMed
  • ORPHANET J RARE DIS 2017 10.1186/s13023-017-0702-5 Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience Yang1, A; Kim, J; Cho, SY; Jin, DK
    View PubMed
  • Ann Lab Med. 2017 Jan;37(1):92-94. doi: 10.3343/alm.2017.37.1.92. Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment Jin HS11, Song HY2, Cho SY3, Ki CS4, Yang SH1, Kim OH5, Kim SJ6.
    View PubMed
  • Orphanet J Rare Dis. 2016 Aug 9;11(1):113. doi: 10.1186/s13023-016-0496-x. Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study Cho EK11, Kim J1, Yang A1, Ki CS2, Lee JE3, Cho SY4, Jin DK1.
    View PubMed
  • BMC Med Genet. 2016 Aug 12;17(1):58. doi: 10.1186/s12881-016-0319-x. Report of 5 novel mutations of the alpha-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I Kwak MJ11, Huh R2, Kim J2, Park HD3, Cho SY2, Jin DK4.
    View PubMed
  • Am J Hum Genet. 2016 Jun 2;98(6):1243-8. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia Cho SY11, Bae JS2, Kim NK3, Forzano F4, Girisha KM5, Baldo C6, Faravelli F4, Cho TJ7, Kim D8, Lee KY8, Ikegawa S9, Shim JS10, Ko AR11, Miyake N12, Nishimura G13, Superti-Furga A14, Spranger J15, Kim OH16, Park WY17, Jin DK18.
    View PubMed
  • Ann Clin Lab Sci. 2016 May;46(3):302-7. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review Park EG11, Cho SY2, Lee J1, Kim J1, Cho H1, Kim J1, Huh R1, Ki CS3, Kim OH4, Jin DK5.
    View PubMed
  • Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia A Case Report Jeong JH11, Lee AL, Cho SY, Jin DK, Im SB.
    View PubMed
  • Mol Genet Metab. 2016 Apr;117(4):447-55. doi: 10.1016/j.ymgme.2016.02.001. Epub 2016 Feb 3. AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II Ko AR11, Jin DK2, Cho SY3, Park SW4, Przybylska M5, Yew NS5, Cheng SH5, Kim JS6, Kwak MJ7, Kim SJ8, Sohn YB9.
    View PubMed
  • Mol Pharm. 2015 Oct 5;12(10):3759-65. doi: 10.1021/acs.molpharmaceut.5b00550. Epub 2015 Sep 21. Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein Kim SJ11, Kwak HH2, Cho SY3, Sohn YB4, Park SW5, Huh R3, Kim J3, Ko AR6, Jin DK3.
    View PubMed
  • HONG KONG JOURNAL OF PAEDIATRICS, OCT 2015, 20(4):226-234 Growth Hormone Modulates mRNA Expression of the GABA(B1) Receptor Subunit and GH/IGF Axis Genes in a Mouse Model of Prader-Willi Syndrome Lee JY1, Kang JY, Lee SY, Cho SY, Jin DK
    View PubMed
  • Orphanet J Rare Dis. 2015 Oct 31;10:141. doi: 10.1186/s13023-015-0356-0. Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II Cho SY11, Lee J1, Ko AR2, Kwak MJ3, Kim S4, Sohn YB5, Park SW6, Jin DK7.
    View PubMed
  • Orphanet J Rare Dis. 2015 Sep 25;10:121. doi: 10.1186/s13023-015-0337-3. Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome Kim C11,2, Kwak MJ3, Cho SY4, Ko AR1, Rheey J5, Kwon JY6, Chung Y7, Jin DK8.
    View PubMed
  • J Korean Med Sci. 2015 Jul;30(7):911-6. doi: 10.3346/jkms.2015.30.7.911. Epub 2015 Jun 10. Disease-specific Growth Charts of Marfan Syndrome Patients in Korea Kwun Y11, Kim SJ2, Lee J1, Isojima T3, Choi DS4, Kim DK5, Huh J1, Kang IS1, Chang M1, Cho SY1, Sohn YB6, Park SW7, Jin DK1.
    View PubMed
  • Ann Clin Lab Sci. 2015 Summer;45(4):458-61. Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome Huh R11, Cho SY1, Kim J1, Ki CS2, Jin DK3.
    View PubMed
  • Ann Clin Lab Sci. 2015 Spring;45(2):215-8. Hypoparathyroidism in a 3-year-old Korean Boy with Sotos Syndrome and a Novel Mutation in NSD1 Wejaphikul K11, Cho SY2, Huh R2, Kwun Y2, Lee J2, Ki CS3, Jin DK4.
    View PubMed
  • Mol Genet Metab. 2015 Feb;114(2):156-60. doi: 10.1016/j.ymgme.2014.08.009. Epub 2014 Aug 30. Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome Sohn YB11, Cho SY2, Lee J2, Kwun Y2, Huh R2, Jin DK3.
    View PubMed
  • Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta Cho SY11, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK.
    View PubMed
  • Am J Med Genet A. 2015 Jan;167A(1):86-94. doi: 10.1002/ajmg.a.36816. Epub 2014 Oct 22. Disease-Specific Growth Charts for Korean Infants with Prader-Willi Syndrome Lee J11, Isojima T, Chang MS, Kwun YH, Huh R, Cho SY, Sohn YB, Jin DK.
    View PubMed
  • Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24. Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis Kaname T11, Ki CS2, Niikawa N3, Baillie GS4, Day JP5, Yamamura K6, Ohta T7, Nishimura G8, Mastuura N9, Kim OH10, Sohn YB11, Kim HW12, Cho SY13, Ko AR14, Lee JY14, Kim HW15, Ryu SH16, Rhee H17, Yang KS17, Joo K18, Lee J19, Kim CH20, Cho KH21, Kim D21, Yanagi K1, Naritomi K1, Yoshiura K22, Kondoh T23, Nii E24, Tonoki H25, Houslay MD26, Jin DK27.
    View PubMed