Potential risk of inguinal hernia in complete androgen insensitivity syndrome [0.03%]
完全雄激素不敏感综合征潜在的腹股沟疝风险
Yu Kimizuka,Takeshi Sato,Satsuki Nakano et al.
Yu Kimizuka et al.
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ [0.03%]
先天性甲状腺功能减低症患者中发现的PAX8变异的功能分析
Khishigjargal Batjargal,Toshihiro Tajima,Eriko Fujita-Jimbo et al.
Khishigjargal Batjargal et al.
Paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development. Heterozygous pathogenic variants of PAX8 typically cause congenital hypothyroidism (CH) due to thyroid hypoplasia. Additionally, pathogenic PAX...
A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation [0.03%]
由于PAX8框移突变伴随尿生殖系统畸形而致先天性甲状腺功能减退症的病例报告
Kanako Tanase-Nakao,Koji Muroya,Masanori Adachi et al.
Kanako Tanase-Nakao et al.
PAX8 is a transcription factor that is expressed in the thyroid gland and kidneys. Monoallelic loss-of-function PAX8 variants cause congenital hypothyroidism (CH), and urogenital malformations are infrequent complications seen in less than ...
Experience with enteral sulfonylurea monotherapy for extremely low birth weight infants with hyperglycemia [0.03%]
肠道给药磺脲类药物单药治疗极低出生体重儿高血糖的临床应用体验
Ai Nakagawa,Daishi Hirano,Yuka Inage et al.
Ai Nakagawa et al.
Limited data are available on the effects of enteral sulfonylurea (SU) monotherapy in extremely low birth weight infants (ELBWIs) with hyperglycemia. Therefore, we report our experience with enteral SU monotherapy for hyperglycemic ELBWIs. ...
Changes, limitations, and prospects of adult height in GH treatment for Japanese GHD patients [0.03%]
GH治疗日本GHD患者成年身高变化、限制和展望
Toshiaki Tanaka
Toshiaki Tanaka
For the treatment of pituitary dwarfism (called pituitary short stature in 1987 and renamed as growth hormone deficiency [GHD] in 1993), pituitary-derived human growth hormone (phGH) was approved in 1975, and recombinant hGH (rhGH) was appr...
Serum iron is negatively correlated with the HbA1c level in children and adolescents with type 1 diabetes mellitus [0.03%]
血清铁与儿童和青少年1型糖尿病患者的HbA1c水平呈负相关关系
I Wayan Eka Satriawibawa,I Made Arimbawa,Ketut Ariawati et al.
I Wayan Eka Satriawibawa et al.
Although mainly affected by the blood glucose levels, the level of HbA1c could be influenced by other important factors, such as an iron deficiency, which is commonly found in children with type 1 diabetes mellitus (T1DM). However, a clinic...
Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature [0.03%]
5α-还原酶缺乏症患者的睾丸组织学分析及与正常对照组隐睾的比较和文献综述
Tamaki Wada,Chihiro Ichikawa,Makoto Takeuchi et al.
Tamaki Wada et al.
As evidenced by the intact histology of the testes during infancy, testicular differentiation during the prenatal period occurs normally in individuals with 5 alpha-reductase type 2 deficiency (5αRD); however, a majority of these individua...
Higher serum thyroid autoantibody value is a risk factor of hypothyroidism in children and young adults with chronic thyroiditis [0.03%]
儿童及年轻成人慢性甲状腺炎发展为甲减的危险因素是较高的血清甲状腺自身抗体水平
Kazuhiro Shimura,Kanako Yoshizaki,Yukihiro Hasegawa
Kazuhiro Shimura
Thyroid function in patients with chronic thyroiditis (CT) varies depending on the clinical course. Serum antithyroglobulin antibody (TgAb) and antithyroid peroxidase antibody (TPOAb) levels may be used to predict hypothyroidism in CT. In t...
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision) [0.03%]
先天性肾上腺增生21-羟化酶缺乏症诊疗指南(2021年修订版)
Tomohiro Ishii,Kenichi Kashimada,Naoko Amano et al.
Tomohiro Ishii et al.
Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic var...
Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio [0.03%]
新型甲状腺球蛋白基因变异(Gly145Glu)致细胞内甲状腺球蛋白运输障碍的6岁患儿的甲状腺肿与游离T3/游离T4比值的相关性研究
Misayo Matsuyama,Hirotake Sawada,Shinobu Inoue et al.
Misayo Matsuyama et al.
Thyroglobulin gene abnormalities cause thyroid dyshormonogenesis. A 6-yr-old boy of consanguineous parents presented with a large goiter and mild hypothyroidism (thyroid-stimulating hormone [TSH] 7.2 μIU/mL, free T3 [FT3] 3.4 pg/mL, free T...