RESUMEN
A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
RESUMEN
A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
RESUMEN
Objective To explore the significance and value of Kisspeptin in the diagnosis and therapeutic evaluation for idiopathic central precocious puberty(ICPP) in girls.Methods Twenty-four girls with ICPP and 21 girls with premature thelarche(PT) who were hospitalized in the Children's Hospital of Jiangxi Province from Jun.2012 to Jan.2013 were selected as ICPP group and PT group,and 25 healthy girls were selected as healthy control group.The coagulation vein blood in ICPP girls before treatment and after 6 months treatment and PT girls and healthy girls were collected,and enzyme linked immunosorbent assay was used to detect the plasma Kisspeptin level,and t test was used to analyze the differences among the 4 groups.Results The Kisspeptin level of girls with ICPP [(1.80 ± 0.13) μg/L]was apparently higher than that of PT groups [(1.41 ± 0.10) μg/L] and healthy control group[(1.39 ± 0.13) μg/L],and the differences were statistically significant (t =10.974,14.787,all P =0.000).However,the difference of Kisspeptin between PT group and healthy control group was not statistically significant(t =10.970,P =0.095).In addition,the Kisspeptin level of ICPP girls who undewent 6-month treatment [(1.49 ± 0.15) μg/L] was significantly lower than that before treatment,and the difference was statistically significant (t =10.80,P ＜ 0.05) ;but,compared with PT group and healthy control group,there was no significant difference (t =6.32,P =0.060 ; t =7.44,P =0.214).Conclusions Kisspeptin level is related with pubertal development,and it can be used as an important evidence in ICPP diagnosis and an important parameter in ICPP therapeutic evaluation.
