Ann Pediatr Endocrinol Metab Search

CLOSE


Case Report

  • HOME
  • ARTICLE CATEGORY
  • Case Report
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature
Tae Youp Kim, Kyung Mi Jang, Chang Won Keum, Seung Hwan Oh, Woo Yeong Chung
Ann Pediatr Endocrinol Metab. 2020;25(4):272-276.   Published online July 29, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
Jaewon Choe, Jae Hyun Kim, Young Ah Kim, Jieun Lee
Ann Pediatr Endocrinol Metab. 2020;25(3):192-197.   Published online July 29, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
A case of primary hyperparathyroidism due to an intrathymic ectopic parathyroid adenoma in a 15-year-old boy
Youngseok Seo, Kyungchul Song, Han Saem Choi, Junghwan Suh, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim
Ann Pediatr Endocrinol Metab. 2020;25(3):187-191.   Published online July 29, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism
Su-Jeong Lee, Jung-Eun Moon, Gi-Min Lee, Min-Hyun Cho, Cheol Woo Ko
Ann Pediatr Endocrinol Metab. 2020;25(2):132-136.   Published online June 30, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
Hyun Woo Son, Jeong Eun Lee, Seung Hwan Oh, Changwon Keum, Woo Yeong Chung
Ann Pediatr Endocrinol Metab. 2020;25(2):126-131.   Published online June 30, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak
Ann Pediatr Endocrinol Metab. 2020;25(1):63-67.   Published online March 31, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene
So Yoon Jung, Jeongho Lee, Dong Hwan Lee
Ann Pediatr Endocrinol Metab. 2020;25(1):57-62.   Published online March 31, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome
Yoo-Mi Kim, Yeoun Joo Lee, Soo Yeon Kim, Chong Kun Cheon, Han Hyuk Lim
Ann Pediatr Endocrinol Metab. 2020;25(1):52-56.   Published online March 31, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab. 2020;25(1):46-51.   Published online March 31, 2020
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature
Mafalda Cascais, Ester Pereira, Alexandra Vieira, Margarida Venâncio, Lina Ramos, Pascoal Moleiro
Ann Pediatr Endocrinol Metab. 2019;24(4):262-266.   Published online December 31, 2019
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Two cases of ketosis-prone diabetes mellitus in Korean adolescents
Won Bin Hwang, Ji Hyun Kim, Sung Min Cho
Ann Pediatr Endocrinol Metab. 2019;24(4):257-261.   Published online December 31, 2019
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
Ann Pediatr Endocrinol Metab. 2019;24(4):253-256.   Published online December 31, 2019
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    PDFSupplementary Material
A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
Junghwan Suh, Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Jin-Sung Lee, Ho-Seong Kim
Ann Pediatr Endocrinol Metab. 2019;24(4):248-252.   Published online December 31, 2019
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature
Sun Kim, Yeong Seok Lee, Dong Hyun Kim, Aram Yang, Tack Lee, Seun Deuk Hwang, Dae Gyu Kwon, Ji Eun Lee
Ann Pediatr Endocrinol Metab. 2019;24(3):207-211.   Published online September 30, 2019
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
A case of treatment-induced neuropathy in an adolescent with type 1 diabetes
Niranjana Varadharaju, Dhivyalakshmi Jeevarathnam, Mahalakshmi Rajan, Vinoth Ponnurangam Nagarajan, Saji James
Ann Pediatr Endocrinol Metab. 2019;24(3):203-206.   Published online September 30, 2019
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
  • Journal Impact Factor 2.2
  • SCImago Journal & Country Rank
  • templates

ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
AUTHOR INFORMATION
Editorial Office
501-107, 30 Seocho-daero 74-gil, Seocho-gu, Seoul 06622, Republic of Korea
Tel: +82-2-3471-4268    Fax: +82-2-3471-4269    E-mail: editor@e-apem.org                

Copyright © 2024 by Korean Society of Pediatric Endocrinology.

Developed in M2PI

Close layer
prev next