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Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
Ja Hye Kim
, Gu-Hwan Kim
, Han-Wook Yoo
, Jin-Ho Choi
Ann Pediatr Endocrinol Metab.
2023;28(2):77-86. Published online June 30, 2023
DOI:
https://doi.org/10.6065/apem.2346108.054
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the
CYP17A1
mutation
Hae In Lee
, Ahreum Kwon
, Jung Hwan Suh
, Han Saem Choi
, Kyung Chul Song
, Hyun Wook Chae
, Ho-Seong Kim
Ann Pediatr Endocrinol Metab.
2021;26(1):66-70. Published online March 31, 2021
DOI:
https://doi.org/10.6065/apem.2040184.092
Cited By 3
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in
CYP21A2
causing nonclassic congenital adrenal hyperplasia
Hamza Nasir
, Syed Ibaad Ali
, Naeem Haque
, Stefan K. Grebe
, Salman Kirmani
Ann Pediatr Endocrinol Metab.
2018;23(3):158-161. Published online September 28, 2018
DOI:
https://doi.org/10.6065/apem.2018.23.3.158
Cited By 1
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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
Ann Pediatr Endocrinol Metab.
2016;21(1):1-6. Published online March 31, 2016
DOI:
https://doi.org/10.6065/apem.2016.21.1.1
Cited By 17
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Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia
Min Kyung Yu, Mo Kyung Jung, Ki Eun Kim, Ah Reum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
Ann Pediatr Endocrinol Metab.
2015;20(3):155-161. Published online September 30, 2015
DOI:
https://doi.org/10.6065/apem.2015.20.3.155
Cited By 18
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Clinical and molecular review of atypical congenital adrenal hyperplasia
Taninee Sahakitrungruang
Ann Pediatr Endocrinol Metab.
2015;20(1):1-7. Published online March 31, 2015
DOI:
https://doi.org/10.6065/apem.2015.20.1.1
Cited By 14
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Congenital lipoid adrenal hyperplasia
Chan Jong Kim
Ann Pediatr Endocrinol Metab.
2014;19(4):179-183. Published online December 31, 2014
DOI:
https://doi.org/10.6065/apem.2014.19.4.179
Cited By 21
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p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
Hye Won Park, Byung Ok Kwak, Gu-Hwan Kim, Han-Wook Yoo, Sochung Chung
Ann Pediatr Endocrinol Metab.
2013;18(1):40-43. Published online March 31, 2013
DOI:
https://doi.org/10.6065/apem.2013.18.1.40
Cited By 2
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Manifestation of Giant Bilateral Symptomatic Adrenal Myelolipomas in an Adult Patient with Congenital Adrenal Hyperplasia.
Yoo Mi Kim, Jin Ho Choi, Beom Hee Lee, Gu Hwan Kim, Beom Sik Hong, Yong Jun Ryu, Han Wook Yoo
Ann Pediatr Endocrinol Metab.
2012;17(4):244-248.
DOI:
https://doi.org/10.6065/apem.2012.17.4.244
Cited By 1
PDF
Revaluation of Neonatal Screening Test for Congenital Adrenal Hyperplasia.
Kyung Il Oh, Sung Jin Kim, Dong Hyun Kim, Ja Kyoung Kim, Yong Hun Jun, Jong Weon Choi, Ji Eun Lee
Ann Pediatr Endocrinol Metab.
2006;11(2):192-198.
PDF
Genotype of Steroid 21-Hydroxylase Gene and Clinical Characteristics in Patients with Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency.
Jung Min Ko, Jin Ho Choi, Gu Hwan Kim, Han Wook Yoo
Ann Pediatr Endocrinol Metab.
2005;10(1):57-63.
PDF
Effect on Final Height of Gonadotropin-Releasing Hormone Agonist (GnRHa) in Children with Congenital Adrenal Hyperplasia.
Kyung Hee Yi
Ann Pediatr Endocrinol Metab.
2005;10(1):50-56.
PDF
Final Adult Height and Its Influencing Factors in Patients with Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency.
Su Young Hong, Hye Rim Chung, Se Young Kim, Kyung Hee Yi, Choong Ho Shin, Sei Won Yang
Ann Pediatr Endocrinol Metab.
2005;10(1):42-49.
PDF
Changes in High Levels of 17 alpha-Hydroxyprogesterone at Neonatal Screening.
Eun Young Park, Jin Hyung Cho, Su Jin Lee, Seung Yang, Kwang Nam Kim, Jeh Hoon Shin, Phil Soo Oh
Ann Pediatr Endocrinol Metab.
2003;8(2):156-161.
PDF
Two Cases of Secondary Central Precocious Puberty Occurred in Congenital Adrenal Hyperplasia.
Hye Cheon Jeong, Heon Seok Han
Ann Pediatr Endocrinol Metab.
2003;8(1):81-86.
PDF
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ABOUT
Aims and Scope
About the Journal
Editorial Board
Principles of Transparency and Best Practice
Open Access
Subscription Information
Contact us
ARTICLE CATEGORY
Original Article
Review Article
Case Report
Others
Browse all articles >
BROWSE ARTICLES
New Issue
All Issues
Accepted
Ahead-of Print
Most View
Most Download
Most Cited
Funded Articles
Ann Pediatr Endocrinol Metab Search
Author Index
AUTHOR INFORMATION
Instructions for Authors
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