期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022; 14 (3)
Xq22.3-q23 microdeletion is a rare genomic disorder. The purpose of this study was to emphasize the correlation between clinical phenotype and genotyp......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022; 14 (3)
Objective: The incidence of type 1 diabetes mellitus (T1DM) is rapidly increasing worldwide. However, the incidence in Henan Province of China has bee......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022; 14 (1)
Objective: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021; 13 (1)
Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. If the patient does not respond ......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021; 13 (1)
Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, w......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2020; 12 (1)
Objective: The aim was to assess growth velocity (GV) during human recombinant growth hormone (hGH) treatment of children with multiple pituitary horm......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2020; 12 (2)
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anteri......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (4)
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disa......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (4)
Objective: To explore the clinical presentation and molecular genetic characteristics of a cohort of congenital hyperinsulinism (CHI) patients from so......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (2)
The LHCGR gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females and i......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (3)
Objective: Studies have reported inconsistent results on the associations between lipids and insulin resistance (IR) and asthma. The purpose of this s......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2018; 10 (1)
Objective: To evaluate the effect of intrahepatic cholestasis of pregnancy (ICP) on neonatal birth weight. Methods: Potential articles were identified......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2018; 10 (2)
Mutations in the insulin receptor (INSR) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). Insulin resistance is a ......
期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2018; 10 (2)
Objective: To explore the association between maternal subclinical hypothyroidism (SCH) in pregnancy and the somatic and intellectual development of t......