- Clinical genetics of defects in thyroid hormone synthesis
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Kwak MJ
- KMID: 2432279
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):169-175.
- doi: 10.6065/apem.2018.23.4.169
Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be... -
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- Severe recurrent nocturnal hypoglycemia during chemotherapy with 6-mercaptopurine in a child with acute lymphoblastic leukemia
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Cho EM, Moon JE, Lee SJ, Ko CW
- KMID: 2432275
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):226-228.
- doi: 10.6065/apem.2018.23.4.226
Various endocrine dysfunctions occur during chemotherapy, including hypoglycemia. However, reports of hypoglycemia associated with 6-mercaptopurine (6-MP) are rare. Herein, we report an 8-year-old boy with severe symptomatic hypoglycemia likely due... -
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- Growth hormone therapy in patients with Noonan syndrome
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Seo GH, Yoo HW
- KMID: 2432280
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):176-181.
- doi: 10.6065/apem.2018.23.4.176
Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include... -
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- Interpretation of androgen and anti-Mullerian hormone profiles in a Hispanic cohort of 5- to 8-year-old girls with premature adrenarche
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Brar PC, Dingle E, Ovadia D, Pivo S, Prasad V, David R
- KMID: 2432283
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):210-214.
- doi: 10.6065/apem.2018.23.4.210
PURPOSE: Premature adrenarche (PA) often leads to polycystic ovary syndrome (PCOS). Higher anti-mullerian hormone (AMH) levels are reported in PCOS. We studied the androgen profile and AMH profiles in Hispanic... -
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- A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK
- KMID: 2432276
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):229-234.
- doi: 10.6065/apem.2018.23.4.229
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate... -
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- Early-life exposure to endocrine disrupting chemicals associates with childhood obesity
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Yang C, Lee HK, Kong AP, Lim LL, Cai Z, Chung AC
- KMID: 2432281
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):182-195.
- doi: 10.6065/apem.2018.23.4.182
Increasing prevalence of childhood obesity poses threats to the global health burden. Because this rising prevalence cannot be fully explained by traditional risk factors such as unhealthy diet and physical... -
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- The role of p21/CIP1/WAF1 (p21) in the negative regulation of the growth hormone/growth hormone receptor and epidermal growth factor/epidermal growth factor receptor pathways, in growth hormone transduction defect
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Kostopoulou E, Rojas Gil , Spiliotis
- KMID: 2432278
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):204-209.
- doi: 10.6065/apem.2018.23.4.204
PURPOSE: Growth hormone transduction defect (GHTD) is characterized by severe short stature, impaired STAT3 (signal transducer and activator of transcription-3) phosphorylation and overexpression of the cytokine inducible SH2 containing protein... -
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- Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
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Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK
- KMID: 2432285
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):235-239.
- doi: 10.6065/apem.2018.23.4.235
Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are... -
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- The effect of overweight on the luteinizing hormone level after gonadorelin stimulation test in girls with idiopathic central precocious puberty
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Lee HY, Lee YJ, Ahn MB, Cho WK, Suh BK
- KMID: 2432284
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):215-219.
- doi: 10.6065/apem.2018.23.4.215
PURPOSE: We investigated the effect of overweight on luteinizing hormone (LH) levels after a gonadorelin stimulation test in Korean girls with idiopathic central precocious puberty (CPP). METHODS: Medical records of 234... -
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- Association between hemoglobin glycation index and cardiometabolic risk factors in Korean pediatric nondiabetic population
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Lee B, Heo YJ, Lee YA, Lee J, Kim JH, Lee SY, Shin CH, Yang SW
- KMID: 2432282
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):196-203.
- doi: 10.6065/apem.2018.23.4.196
PURPOSE: The hemoglobin glycation index (HGI) represents the degree of nonenzymatic glycation and has been positively associated with cardiometabolic risk factors (CMRFs) and cardiovascular disease in adults. This study aimed... -
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- Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
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Heo YJ, Ko JM, Lee YA, Shin CH, Yang SW, Kim MJ, Park SS
- KMID: 2432277
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):220-225.
- doi: 10.6065/apem.2018.23.4.220
Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical... -
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