- Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"
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Jin HY
- KMID: 2553011
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):1-2.
- doi: 10.6065/apem.2423018edi01
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- The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome
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Lee J, Kim M, Yoo S, Yoon JY, Cheon CK
- KMID: 2553021
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):70-72.
- doi: 10.6065/apem.2346006.003
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- Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation
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Kim J, Noh ES, Kim MS, Choi JM, Lee SM, Cho SY
- KMID: 2553020
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):67-69.
- doi: 10.6065/apem.2346056.028
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- An overview of growth hormone therapy in pediatric cases documented in the Kabi International Growth Study (Pfizer International Growth Database)
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Geffner ME, Ranke MB, Wajnrajch MP, for the Pfizer International Growth Database Strategic Executive Committee, Strategic Advisory Board, and International Board
- KMID: 2553012
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):3-11.
- doi: 10.6065/apem.2346206.103
The Kabi International Growth Study (KIGS) was first established in 1987 and is the largest pharmaco-epidemiological study of recombinant human growth hormone (rhGH). KIGS is aimed at evaluating long-term safety... -
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- Pediatric and adult osteoporosis: a contrasting mirror
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Ferjani HL, Cherif I, Nessib DB, Kaffel D, Maatallah K, Hamdi W
- KMID: 2553013
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):12-18.
- doi: 10.6065/apem.2346114.057
Pediatric osteoporosis (PO) is a condition that is currently gaining recognition. Due to the lack of official definitions over the past few decades, the exact incidence of PO is unknown.... -
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- Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
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Kim SJ, Joo E, Park J, Seol CA, Lee JE
- KMID: 2553016
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):38-45.
- doi: 10.6065/apem.2346036.018
Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods: We reviewed... -
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- Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review
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Ha J, Choi, Y, Jung MK, Yoo EG, Yoo HW
- KMID: 2553019
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):60-66.
- doi: 10.6065/apem.2346042.021
Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of... -
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- Effectiveness and safety of pamidronate treatment in nonambulatory children with low bone mineral density
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Lee M, Kwon A, Song K, Lee HI, Choi HS, Suh J, Chae HW, Kim HS
- KMID: 2553017
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):46-53.
- doi: 10.6065/apem.2346028.014
Purpose: Nonambulatory pediatric patients may have low bone mineral density (BMD) and increased risk of pathologic fractures. Though bisphosphonate therapy is the mainstream medical intervention in these children, clinical data... -
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- Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010–2011)
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Lee TK, Kim YM, Lim HH
- KMID: 2553015
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):29-37.
- doi: 10.6065/apem.2346044.022
Purpose: The impacts of growth restriction and programming in the fetal stage on metabolic and bone health in children and adolescents are poorly understood. Moreover, there is insufficient evidence for... -
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- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
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Yoon JH, Hwang S, Kim JH, Kim GH, Yoo HW, Choi JH
- KMID: 2553018
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):54-59.
- doi: 10.6065/apem.2346014.007
Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of... -
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- Association of maternal insulin resistance with neonatal insulin resistance and body composition/size: a prospective cohort study in a sub-Saharan African population
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Akinola IJ, Ubuane PO, Dada AO, Chionuma JO, Kuku-Kuye TO, Olalere FD
- KMID: 2553014
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):19-28.
- doi: 10.6065/apem.2346136.068
Purpose: We prospectively evaluated the association of the insulin resistance of third-trimester Nigerian pregnant women with their newborn infants' insulin resistance and birth size. Pregnancy-associated insulin resistance (IR), often assessed... -
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