10 results

S1 Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis
Eu-Seon Noh, Chiwoo Kim, Sung Yoon Cho
KMSID: 1516085519   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S1-S2.   Published online 2023 December 31    DOI: http://dx.doi.org/10.6065/apem.2244286.143
      
S3 Maturity-onset diabetes of the young due to NR0B2 gene mutation
Hae In Lee, Soon Sung Kwon, Myeongseob Lee, Su Jin Kim, Kyungchul Song, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim, Junghwan Suh
KMSID: 1516085516   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S3-S5.   Published online 2023 December 31    DOI: http://dx.doi.org/10.6065/apem.2244284.142
      
S6 A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review
Minji Kim, Jun Lee, Sukdong Yoo, Ji Yeon Song, Eu Jeen Yang, Seong Heon Kim, Chong Kun Cheon, Ju Young Yoon
KMSID: 1516085518   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S6-S8.   Published online 2023 February 3    DOI: http://dx.doi.org/10.6065/apem.2244206.103
      
S9 Case report of familial hypobetalipoproteinemia: a novel APOB mutation and literature review
So Yun Park, Heung Sik Kim, Mi Ae Chu, Hyo-Jeong Jang, Seokjin Kang
KMSID: 1516085517   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S9-S11.   Published online 2023 February 3    DOI: http://dx.doi.org/10.6065/apem.2244180.090
      
S12 A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism
Chiwoo Kim, Eu-seon Noh, Sung Yoon Cho
KMSID: 1516085514   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S12-S13.   Published online 2023 February 1    DOI: http://dx.doi.org/10.6065/apem.2244130.065
      
S14 Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication
Ha young Jo, Hyun Ji Jang, Young Mi Kim, Soo-Han Choi, Kyung Hee Park, Hye Won Yoo, Su Jeong Park, Yoon Hee Jo, Min Jung Kwak
KMSID: 1516085511   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S14-S16.   Published online 2023 February 1    DOI: http://dx.doi.org/10.6065/apem.2244122.061
      
S17 A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features
Na won Lee, Ji Eun Jeong, Young Hwan Kim, Chang Seok Ki, Jin Kyung Kim
KMSID: 1516085512   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S17-S19.   Published online 2023 February 1    DOI: http://dx.doi.org/10.6065/apem.2244106.053
      
S20 A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient
Gimin Lee, Mi Seon Lee, Rosie Lee, Jung Eun Moon
KMSID: 1516085515   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S20-S22.   Published online 2022 June 30    DOI: http://dx.doi.org/10.6065/apem.2244070.035
      
S23 Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene
Kyujung Park, Kyung In Lim, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang
KMSID: 1516085513   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S23-S24.   Published online 2022 June 29    DOI: http://dx.doi.org/10.6065/apem.2244068.034
      
S25 Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review
Mi Ra Kim, Eun-Gyong Yoo, Seonkyeong Rhie, Go Hun Seo, Mo Kyung Jung
KMSID: 1516085510   Ann Pediatr Endocrinol Metab. 2023;28(Suppl 1):S25-S28.   Published online 2022 June 30    DOI: http://dx.doi.org/10.6065/apem.2244052.026
      
Articles from Annals of Pediatric Endocrinology & Metabolism are provided here courtesy of Korean Society of Pediatric Endocrinology