获奖：

1.性发育异常精准医疗体系的建立和推广，全国妇幼健康科学技术奖，二等奖，202109

2.儿童糖尿病流行趋势和并发症患病调查及血糖管理系列研究，北京医学科技奖，三等奖，第一，201805

3.儿童糖尿病流行及并发症诊疗和血糖控制系列研究，妇幼健康会第一届的科技成果奖，三等奖，第一， 201511

4.重组人生长激素系列产品研制与产业化，国家科学技术进步奖二等奖，第一，201512

出版的著作

1.Bpook儿科内分泌学，主译 ，科学出版社， 2022-06

2.儿童罕见病第二辑，主编，科学出版社， 2022-03

3.儿童罕见病第一辑，主编 ，科学出版社，2020-04

4.图解特纳综合征，主编，科学出版社，2021-03 

5.儿童糖尿病家庭管理，主编 ，人民卫生出版社，2020-06

6.女性青春期发育--临床实践指南，主译，北京大学医学出版社，2017-06

近五年发表的重要论文

1. 张贝贝，范丽君，刘莹，巩纯秀*伴KMT2D基因新发变异的Kabuki综合征患儿1例。中华医学杂志，2022；102（2）157-158

2. 王 毅，巩纯秀*细胞外基质常见成分调节生长板软骨形成和软骨内骨化机制研究进展。中国实用儿科杂志，2022；37（6）478-483

3. Gao F, Zhao X, Cao B, Fan X, Li X, Li L, Sui S, Su Z, Gong C. Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature. J Pers Med. 2022 Mar 5;12(3):407. doi: 10.3390/jpm12030407. PMID: 35330407; PMCID: PMC8948816.

4. YUAN DING, QIAO WANG , CHUN‑XIU GONG*Hydrocephaluspresented as the prominent symptom of severe 5,10‑methylenetetrahydrofolatereductasedeficiency in an infant: A case report。MEDICINE International 2022；2（12）1-5

5.丁圆，李晓侨，梁学军，巩纯秀*表观盐皮质激素增多综合征HSD11B2基因变异1例。中华儿科杂志，2022 ；60 （5）468-470

6. Fan X, Zhang B, Fan L, Chen J, Su C, Cao B, Wei L, Qin M, Gong C. DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing. J Pers Med. 2022 May 26;12(6):872. doi: 10.3390/jpm12060872. PMID: 35743657; PMCID: PMC9225209.

7. Cao B, Liu M, Luo Q, Wang Q, Liu M, Liang X, Wu D, Li W, Su C, Chen J, Gong C. The Effect of BMI, Age, Gender, and Pubertal Stage on Bone Turnover Markers in Chinese Children and Adolescents. Front Endocrinol (Lausanne). 2022 Jun 13;13:880418. doi: 10.3389/fendo.2022.880418. PMID: 35769079; PMCID: PMC9234688.

8. Wang Y, Qin M, Fan L, Gong C. Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism. Front Endocrinol (Lausanne). 2022 May 20;13:846801. doi: 10.3389/fendo.2022.846801. PMID: 35669683; PMCID: PMC9164197.

9. Xiu Zhao  , Zhe Su , Shaoke Chen  , Xiumin Wang  , Yu Yang , Linqi Chen , Li Liang  , GeliLiu  , Yi Wang  , Yanning Song  , Lijun Fan , Xiaoya Ren 8 and Chunxiu Gong * Growth Curves of Chinese Children withAndrogen

Insensitivity Syndrome: A MulticenterRegistry Study 。J. Pers. Med. 2022;12,（x）.1-14

10. Gao X, Chen J, Cao B, Dou X, Peng Y, Su C, Qin M, Wei L, Fan L, Zhang B, Gong C. First Clinical Study on Long-Acting Growth Hormone Therapy in Children with Turner Sydrome. Horm Metab Res. 2022 Jun;54(6):389-395. doi: 10.1055/a-1842-0724. Epub 2022 May 3. PMID: 35504300; PMCID: PMC9192150.

11．Cao B, Peng Y, Song W, Peng X, Hu L, Liu Z, Liu Z, Gong C, Ni X. Pediatric Continuous Reference Intervals of Serum Insulin-like Growth Factor 1 Levels in a Healthy Chinese Children Population - Based on PRINCE Study. Endocr Pract. 2022 Jul;28(7):696-702. doi: 10.1016/j.eprac.2022.04.004. Epub 2022 Apr 14. PMID: 35430364.

12.陈佳佳，苏畅，刘敏，曹冰燕，巩纯秀  新生SRY基因无义变异所致完全性46, XY性腺发育不良一例。

13.程明，李晓侨，刘敏，巩纯秀*  Oculoskeletodental综合征一例

14.袁峥，宋艳宁，巩纯秀* TPO基因复合杂合突变引起的先天性甲状腺功能减退1例

15.Ren X, Tian Y, Feng G, Wang Y, Zhang B, Cao B, Chen J, Gong C. Hormonal changes throughout puberty in boys: an observational study on the treatment outcome of congenital hypogonadotropic hypogonadism. Chin Med J (Engl). 2021 Oct 21;135(3):362-364. doi: 10.1097/CM9.0000000000001639. PMID: 35108230; PMCID: PMC8812648.

16 陈佳佳 高新颖，曹冰燕， 彭亚光，苏畅， 巩纯秀* 儿童血清胰岛素样生长因子Ⅰ两种检测法一致性评价。中华儿科杂志，2022 ；60（8）781-785

 17.Chen J, Zhong Y, Wei H, Chen S, Su Z, Liu L, Liang L, Lu P, Chen L, Chen R, Ni S, Wang X, Li L, Wang Y, Xu X, Xiao Y, Yao H, Liu G, Jin R, Cao B, Wu D, Su C, Li W, Qin M, Li X, Luo X, Gong C. Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study. BMC Endocr Disord. 2022 Aug 9;22(1):201. doi: 10.1186/s12902-022-01101-8. PMID: 35945517; PMCID: PMC9364582.

18.陈佳佳，巩纯秀，魏丽亚， 曹冰燕，吴迪， 刘莹，李文京* AVPR2基因激活变异致儿童肾性抗利尿不适当综合征二例并文献复习。中华儿科杂志，2021, 59（2）:125-130

19.刘敏，赵耘，梁学军,曹冰燕，苏畅，陈佳佳，巩纯秀* 低碱性磷酸酶血症六例临床和基因分析。中华儿科杂志，2021,59 (3 ):218-222

20..Liu M, Liu M, Liang X, Wu D, Li W, Su C, Cao B, Chen J, Gong C. Clinical and genetic characteristics of hypophosphatasia in Chinese children. Orphanet J Rare Dis. 2021 Apr 7;16(1):159. doi: 10.1186/s13023-021-01798-1. PMID: 33827627; PMCID: PMC8028151.

21.王毅，巩纯秀*CDC45 突变引起Meier-Gorlin 综合征1例报告。中国实用儿科杂志，2021，6（36）479—481

22.Ying Liu,Xiao-Ya Ren, Ya-Guang Peng, Shao-Ke Chen, Xin-Ran Cheng, Miao Qin, Xiao-LingWang,Yan-Ning Song, Li-Jun Fan, Chun-Xiu Gong*  Efficacy andsafety of human chorionic gonadotropin combined with human menopausalgonadotropin and a gonadotropin-releasing hormone pump for male adolescentswith congenital hypogonadotropic hypogonadism

23.秦淼，巩纯秀，曹冰燕，王锐，冯国双，吴迪，梁学军，李文京，刘敏，苏畅，陈佳佳，李晓侨，孟曦，魏丽亚，王峤，刘莹，巩纯秀* 2015至2019年儿童1型糖尿病血糖控制管理现状调查及相关因素分析。中华糖尿病杂志，2021,13（5）

24.曹冰燕，吴迪，巩纯秀* PIK3R1基因变异引起SHORT综合征一例。中华儿科杂志，2021,59 (3 ):228-229

25.Chen, Jia-Jia; Cao,Bing-Yan; Su, Chang; Liu, Min; Wu, Di; Li, Wen-Jing; Gong, Chun-Xiu; A Chinesegirl with Turner syndrome and Duchenne muscular dystrophy diagnosis and managementof this “dual diagnosis”; Chinese Medical Journal: October 07, 2021 - VolumePublish Ahead of Print - Issue -doi: 10.1097/CM9.0000000000001159

26.秦淼，巩纯秀*，刘莹，urner 综合征儿科诊治进展。医学综述，2021,27（17）3467-3472

27.秦淼，巩纯秀* 生长激素缺乏症与非酒精性脂肪肝。中国实用儿科杂志。2021,36（8）597-602

28.李乐乐，巩纯秀* 隐睾症的相关基因研究进展。临床小儿外科杂志，2021，20（8）794-800

29.巩纯秀，李晓侨* 黏多糖贮积症II型的诊断及治疗进展 医学研究杂志2021，50（6）

30.丁圆，曹冰燕，苏畅，刘敏，陈佳佳，范丽君，巩纯秀* 努南综合征20例临床及遗传学分析中华儿科杂志 2021,59（7）

31.魏丽亚，巩纯秀，曹冰燕，李晓侨，梁学军，李文京，吴迪，刘敏，苏畅，陈佳佳 儿童X连锁显性遗传性低磷血症性佝偻病临床及基因分析 中华儿科杂志 2021,59（8）

32.Meijuan Liu†, Min Liu†, Xuejun Liang, Di Wu, Wenjing Li,Chang Su, Bingyan Cao, Jiajia Chen and Chunxiu Gong* Clinical and geneticcharacteristicsof hypophosphatasia in Chinese children BMC https://doi.org/10.1186/s13023-021-01798-1

33.Liu M, Cao B, Liu M, Liang X, Wu D, Li W, Su C, Chen J, Gong C. High Prevalence of Obesity but Low Physical Activity in Children Aged 9-11 Years in Beijing. Diabetes Metab Syndr Obes. 2021 Jul 20;14:3323-3335. doi: 10.2147/DMSO.S319583. PMID: 34321899; PMCID: PMC8312620.

34.高芬琦，巩纯秀，李乐乐  MAMLD1基因在性发育异常中的作用研究进展 中华医学遗传学杂志2021；38（9）912-916.

35.苏畅，巩纯秀* 高胰岛素血症高氨血症综合征诊治研究进展。中国实用儿科杂志，2021；36（10）748-752

36.王毅，巩纯秀*曹冰燕，以新生儿糖尿病起病的胰岛素抵抗综合征及长期随访一例。中华糖尿病杂志，2021；13（9）909-912

37.秦淼，巩纯秀*等 2015至2019年儿童1型糖尿病血糖控制管理现状调查及相关因素分析。中华糖尿病杂志，2021；13（5）462-469

38.孟曦，巩纯秀*CDH2基因变异所致ACOG综合征一例。中华儿科杂志，2121；59（11）978-980

39.孟曦，巩纯秀* Carney+综合征的诊治现状及分子遗传学进展  世界临床药物，2021；42（10）931-936

40.魏丽亚，巩纯秀*儿童X连锁低磷性佝偻病的诊断、治疗及随访进展。国际临床研究杂志，2021,5（4）

41.张贝贝，巩纯秀*Ｒｕｂｉｎｓｔｅｉｎ－Ｔａｙｂｉ综合征诊疗新进展。中华实用儿科临床杂志，2021，36（22）

42.Hou L, Zhao M, Fan L, Cao B, Chen J, Cui Y, Polak M, Gong C. One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria. Orphanet J Rare Dis. 2021 Oct 9;16(1):416. doi: 10.1186/s13023-021-02039-1. Erratum in: Orphanet J Rare Dis. 2022 Mar 29;17(1):144. PMID: 34627348; PMCID: PMC8501610.

43.巩纯秀，儿童糖尿病合并新冠状病毒肺炎住院病人治疗策略。中华实用儿科临床杂志.，2020,35(2)133-138.

44.李乐乐，巩纯秀*COVID-19疫情防控期间儿童及青少年糖尿病居家管理指导建议。中华糖尿病杂志，2012,12.

45.魏丽亚，曹冰燕，孟曦，巩纯秀*儿童及青少年糖尿病综合管理。中国实用内科杂志，2020,40(1)34-40 . 

46.秦淼，巩纯秀*.外周血核型45，XO表型为男性发育异常一例。中华儿科志.，2020,58(3).

47.孟曦，巩纯秀*. 异位胃黏膜和晚发糖尿病的Mitchell‑Riley综合征一例。中华儿科杂志，2020, 58(1).

48.李晓侨，巩纯秀*胱氨酸贮积症诊疗进展。临床儿科杂志，2020,38(2)

49.李晓侨，苏畅，吴迪，巩纯秀*伴有肌张力障碍表现的Costello综合征一例。中华医学杂志，2020,100（22））

50. 魏丽亚，巩纯秀，吴迪，曹冰燕，梁学军，刘敏，李文京，苏畅，儿童及青少年糖尿病酮症酸中毒合并急性胰腺炎患者临床特点分析 中华糖尿病杂志，2020,12（4）

51.巩纯秀，李乐乐，重视容易被误诊的内分泌疾病。中国实用儿科杂志，2020,35（7）

52.中国医师协会儿科学分会内分泌遗传代谢学组, 中华医学会儿科学分会急救学组. 儿童及青少年特殊情况下住院高血糖管理指导建议[J] . 中华糖尿病杂志，2020,12 (10): 765-771.

53.王峤，巩纯秀*从代谢障碍性肢端皮炎谈遗传代谢性疾病急性期的蛋白限制原则。中华实用儿科临床杂志，2020,35（20）：1541-1545

54.施玉婷，巩纯秀*软骨发育不全的诊治研究进展  世界临床药物杂志 2020,41（9）

55.赵岫苏喆 巩纯秀*常见类型性发育异常患儿的生长模式。中华实用儿科临床杂志，202,35（20）:74-77

56.苏畅，巩纯秀* 伴有低血糖的先天遗传代谢性疾病长期营养管理。中华实用儿科临床杂志，202,35（20）:29

58.Cao B, Di W, Su C, Chen J, Liang X, Liu M, Li W, Li X, Gong C. Efficacy and safety of octreotide treatment for diazoxide-unresponsive congenital hyperinsulinism in China. Pediatr Investig. 2020 Mar 17;4(1):29-36. doi: 10.1002/ped4.12175. PMID: 32851339; PMCID: PMC7331369.

59.Wu D, Chen RM, Chen SK, Liu GL, Chen LQ, Yang Y, Wang XL, Peng YG, Gong CX. Final adult height of children with idiopathic short stature: a multicenter study on GH therapy alone started during peri-puberty. BMC Pediatr. 2020 Mar 28;20(1):138. doi: 10.1186/s12887-020-02034-8. PMID: 32222149; PMCID: PMC7102429.

60.Wang Q, Yang YL, Liu M, Chen JJ, Li XQ, Cao BY, Gong CX. Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Clin Chim Acta. 2020 Oct;509:83-90. doi: 10.1016/j.cca.2020.04.004. Epub 2020 May 26. PMID: 32470406.

61.Wang JL, Cao BY, Gong CX, Wu D, Chen JJ, Wei LY. Reference intervals for steroid hormones in healthy 6- to 15-year-old girls based on liquid chromatography-tandem mass spectrometry in China. Chin Med J (Engl). 2020 May 20;133(10):1239-1241. doi: 10.1097/CM9.0000000000000771. PMID: 32433057; PMCID: PMC7249713.

62.Fan L, Song Y, Polak M, Li L, Ren X, Zhang B, Wu D, Gong C. Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency. Mol Genet Genomic Med. 2020 Oct;8(10):e1431. doi: 10.1002/mgg3.1431. Epub 2020 Jul 26. PMID: 32713132; PMCID: PMC7549558.

63.Li L, Su C, Fan L, Gao F, Liang X, Gong C. Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. Orphanet J Rare Dis. 2020 Jul 20;15(1):188. doi: 10.1186/s13023-020-01459-9. PMID: 32690052; PMCID: PMC7370409.

64..Fan L, Zhang B, Li L, Gong C. Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature. Clin Endocrinol (Oxf). 2020 Dec;93(6):687-695. doi: 10.1111/cen.14277. Epub 2020 Jul 27. PMID: 32623730

65.Yi Gu/Xuejun Liang/MingLiu/Di Wu/Wenjing Li/Bingyan Cao/Yuchuan Li/Chang Su/Jiajia Chen/Chunxiu Gong Clinicalfeatures and predictors of remission in children under the age of 7 years withGraves’disease

66. Chen, Jia-Jia; Cao,Bing-Yan; Su, Chang; Liu, Min; Wu, Di; Li, Wen-Jing; Gong, Chun-Xiu; A Chinesegirl with Turner syndrome and Duchenne muscular dystrophy diagnosis and management ofthis “dual diagnosis”; Chinese Medical Journal: October 07, 2020 - VolumePublish Ahead of Print - Issue -doi: 10.1097/CM9.0000000000001159

67. Lele Li, Chang Su, Lijun Fan, Fenqi Gao,Xuejun Liang and Chunxiu Gong*  Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants:WES and Interactome Evidence of Oligogenic Inheritance  Fronteirs in Endocrinology

68.Xuyun Hu,Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, MengtingLi,Shaoke Chen, Chunxiu Gong* and Yiping Shen* The first familial NSD2 caseswith a novelvariant in a Chinese father and daughterwith atypical WHS facialfeatures and a 7.5-yearfollow-up of growth hormone therapy

69.Li L, Gao F, Fan L, Su C, Liang X, Gong C. Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Front Endocrinol (Lausanne). 2020 Dec 23;11:582516. doi: 10.3389/fendo.2020.582516. PMID: 33424767; PMCID: PMC7786837.

70.王峤 李晓侨巩纯秀*颅额鼻综合征一例。中华儿科杂志，2019 ，57（5）  375-379

71.巩 纯 秀，李乐 乐，４６ＸＹ 性 发 育 异常 的 内 分 泌 评 估 及 治 疗。临床小儿外科杂志，2019，18（3） 172-177

72.宋艳宁，巩纯秀* ＮＲ５Ａ１ 基因突变的研究进展。国际儿科学杂志，2019,46(2):109-112

73.巩纯秀，魏丽亚，曹冰燕，应重视 我国儿童2型糖尿病疗现诊状及临床研究策略。中华糖尿病杂志，2019,11(1): 11-14

74.宋艳宁，范丽君，巩纯秀*5a-还原酶缺乏症86例SRD5A2基因检测结果与临床表型分析。中华儿科杂志，2019,57(2): 131-135

75.巩纯秀，谷奕，甲状腺激素不敏感综合征的诊断与治疗。中华实用儿科临床杂志，2019,24(8): 571-573

76.巩纯秀，王嘉丽，儿童甲状腺结节的识别和处理。2019,34(8):565-570

77.赵明，巩纯秀，梁爱民，宋艳宁,刘莹，王嘉丽，纪文静.，46,XY性发育异常患儿85例性别选择及术后随访分析[J].中华儿科杂志2019,57(6):434-439.

78.刘敏，赵耘，巩纯秀* 低磷酸酶血症研究新进展。中华儿科杂志，2019，57(11)

79. 谷奕。巩纯秀*梁学军,婴儿伴急性脑卒中样发作的特殊类型糖尿病一例。中华儿科杂志，2019，57（11）

80.巩纯秀，强调儿童糖尿病综合管理的私人订制理念。中华实用儿科临床杂志，2019，34（20）

81.曹冰燕，巩纯秀*  儿童糖尿病的葡萄糖监测。中华实用儿科临床杂志，2019，34（20）

82.李晓侨，李文京，巩纯秀* Ras⁃MAPK 通路中 HRAS 基因致病变异所致 Costello 综合征一例。中华儿科杂志，2019，57（12）

83.张贝贝，巩纯秀 *CHARGE综合征的诊疗新进展。中华实用儿科临床杂志

84.张贝贝，巩纯秀* Silver‑Russell综合征临床特征及最新指南解读。中华医学杂志 2019，99（48）

85.吴 迪，胡旭 昀，李 晓 侨 ,魏 丽 亚 ，苏 畅，陈 佳 佳，秦淼 ，巩 纯 秀 ，沈 亦 平 *  以 矮 小 为 主 诉 的 ＰＯＲＣＮ 致 病 变 异 引 起 的 局 灶 性真 皮 发 育 不 良 １ 例  中华实用儿科临床杂志2019，34（17）

 86. Cao B, GongC, Wu D, Liang X, Li W, Liu M, Su C, QinM, Meng X, Wei L  Across-sectional survey of adrenal steroidhormones among overweight/obeseboysaccording to puberty stage  BMCPediatr. 2019 Nov 6;19(1):414. 

87. CaoB, Wang R, Gong C, Wu D, Su C, Chen J, YiY, Liu M, Liang X， Li W. An Evaluation of the Accuracy of a Flash Glucose Monitoring System inChildren with Diabetes in comparison with Venous Blood GlucoseJ Diabetes Res. 2019 Sep 9;2019:4845729

88.Huakun Shangguan  , Chang Su , Qian Ouyang  , Bingyan Cao  , Jian Wang  , Chunxiu Gong * and Ruimin Chen   Kabuki syndrome: novel pathogenic variants,new phenotypes and review ofliterature Orphanet J Rare Dis. 2019 Nov 14;14(1):255

89..LeleLi, Chunxiu Gong Central precocious puberty as a prelude of gonad dysplasia wileyonlinelibrary.com/journal/ped4 DOI: 10.1002/ped4.12118  50-54

90.Zhao X, Song Y, Chen S, Wang X, Luo F, Yang Y, Chen L, Chen R, Chen H, Su Z, Wu D, Gong C. Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study. Front Pharmacol. 2019 Mar 15;10:173. doi: 10.3389/fphar.2019.00173. PMID: 30930770; PMCID: PMC6429988.

91..Ding Y, Hu XY, Song YN, Cao BY, Liang XJ, Li HD, Fan X, Chen SK, Shen YP, Gong CX. A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. Chin Med J (Engl). 2019 Feb;132(4):480-482. doi: 10.1097/CM9.0000000000000096. PMID: 30707178; PMCID: PMC6595711.

92.Xiao-Qiao Li, Di Wu, Xue-Jun Liang, Wen-Jing Li, Min Liu, Bing-Yan Cao, ChangSu, Xi Mengand Chun-Xiu Gong* The diagnosis of cystinosis in patientsrevealsnew CTNS gene mutations in the Chinesepopulation  Download Date | 3/10/19 2:11 AM 1-8

93.BeibeiZhang 　Yanning Song 　Wei Li 1,　Chunxiu Gong * Variant analysis of the chromodomain helicasedNA-binding protein 7in pediatric disorders of sex development    Pediatr Invest 2019 Mar; 3(1): 31-38

94..Gong C, Li L, Chen J, Li W. Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome. Pediatr Investig. 2019 Jun 25;3(2):127-130. doi: 10.1002/ped4.12136. PMID: 32851304; PMCID: PMC7331432.

95. Baoheng gui,  Yanning Song,  Zhe Su, Fei-Hong luo,  linqi chen,  Xiumin Wang, ruimin chen,  Yu Yang, Jin Wang,  Xiu Zhao, lijunFan,  Xia liu, Yi Wang, Shaoke chen, chunxiu gong.  New insights into5α-reductase type 2 deficiency based on a multi-centre study: regionaldistributionand genotype–phenotype profiling of SRD5A2 in190Chinese patients

96.吴迪，冯国双，巩纯秀* 生长激素治疗特发性矮小儿意随访至接近成年终身的治疗效果分析。首都医科大学学报。第39卷第一期。8-13

97.宋艳宁，陈佳佳，巩纯秀*17β--羟类固醇脱氢酶3型缺乏症2例并文献文献 。中华实用儿科临床杂志。2018，33（8）618-620

98.陈佳佳，梁学军，刘敏，巩纯秀*儿童1型糖尿病酮症酸中毒合并腹型过敏性紫癜二例 中华糖尿病杂志 2018年6月第10卷 第6期  427-429

99.陈佳佳，曹冰燕，苏畅，巩纯秀 *肺不典型类癌致儿童异位促肾上腺皮质激素综合症一例。中华儿科杂志，2018，56（6）457-459

100.王嘉丽 ，任潇亚，倪鑫，邰隽，巩纯秀*儿童甲状腺癌62例临床分析。中华儿科杂志，2018，56（8） 597-600

101.范丽君，巩纯秀 *5α还原酶2缺乏症的诊疗新进展。 国际儿科学杂志，2018，45（8） 609-614

102.吴迪，巩纯秀*，苏畅，全基因组甲基化差异分析发现OSBPL5甲基化异常可能在Silver-Russell综合征中有致病作用 。中国科学: 生命科学。.55-63

103.梁学军 巩纯秀*等 儿童２型糖尿病合并非酒精性脂肪性肝病的特征及相关因素分析。中华糖尿病杂志

104.李文京 巩纯秀*刘敏  高钙尿症和低镁血症在Bartter综合征和Gitelman综合征分型中的临床价值  北京医学 2018，40（7）  649-653

105.王毅，巩纯秀 * 王希欧  秦淼  27例雄激素不敏感综合征患儿AR基因突变。中国科学: 生命科学 . 64-71

106.巩纯秀，李乐乐。曹冰燕 ，先天性高胰岛素血症诊疗进展。中国实用儿科杂志，2018，33（20）1526-1531

107.魏丽亚，巩纯秀*曹冰燕 ，吴迪， 以高血压为主要表现的神经纤维瘤病I型1例报告并文献复习。临床儿科杂志 ，2018，36（8）587-589

108.陈佳佳，王峤，曹冰燕，巩纯秀*婴儿风糖尿症并代谢障碍性肢端皮炎病1例。中华儿科实用杂志，2018年，33（24）  65-67

109.巩纯秀 儿童青少年糖尿病营养治疗专家共识。中华糖尿病杂志，2018，10（9）569-567。

110.胡旭昀 ，吴迪， 巩纯秀*身材矮小合并短指（趾）畸形3例家系的基因突变与表型分析并文献复习。首都医科大学学报， 201839（6）937-944

111.Wang Q, Cao BY, Su C, Li WJ, Gong CX. Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment. Chin Med J (Engl). 2018 Aug 5;131(15):1879-1881. doi: 10.4103/0366-6999.237397. PMID: 30058590; PMCID: PMC6071453.

112..Cao BY, Gong CX, Wu D, Liang XJ, Li WJ, Liu M, Su C, Qin M, Meng X, Chen JJ, Wei LY. Liquid Chromatography-Tandem Mass Spectrometry-Based Characterization of Steroid Hormone Profiles in Healthy 6 to 14-Year-Old Male Children. Chin Med J (Engl). 2018 Apr 5;131(7):862-866. doi: 10.4103/0366-6999.228238. PMID: 29578133; PMCID: PMC5887748.

113. Li XQ, Peng XX, Gong CX. Access to Orphan Drugs is a Challenge for Sustainable Management of Cystinosis in China. Chin Med J (Engl). 2018 Oct 5;131(19):2388-2389. doi: 10.4103/0366-6999.241814. PMID: 30246737; PMCID: PMC6166461.

114. Song Y, Fan L, Gong C. Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations. Front Pharmacol. 2018 Oct 30;9:1224. doi: 10.3389/fphar.2018.01224. PMID: 30425642; PMCID: PMC6218886.

115. Su C, Liang XJ, Li WJ, Wu D, Liu M, Cao BY, Chen JJ, Qin M, Meng X, Gong CX. Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. J Diabetes Res. 2018 Sep 16;2018:2802540. doi: 10.1155/2018/2802540. PMID: 30306091; PMCID: PMC6165593.