Clinical and genetic features of pediatric congenital hypogonadotropic hypogonadism: A case series of 95 children
10.3760/cma.j.cn311282-20240701-00294
- VernacularTitle:95例儿童先天性低促性腺激素性性腺功能减退症的临床及遗传学特征
- Author:
Dongxia FU
1
;
Yongxing CHEN
;
Xue WU
;
Huizhen WANG
;
Jing GAO
;
Haiyan WEI
Author Information
1. 郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科，郑州 450000
- Keywords:
Congenital hypogonadotropic hypogonadism;
Clinical manifestations;
Testicular function;
Genetic characteristics
- From:
Chinese Journal of Endocrinology and Metabolism
2024;40(11):948-955
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze clinical and genetic characteristics of congenital hypogonadotropic hypogonadism(CHH) in children.Methods:Clinical data of 0-18 year old CHH patients diagnosed in the Department of Endocrinology, Genetics and Metabolism of Children′s Hospital Affiliated to Zhengzhou University from January 1, 2016 to December 31, 2023 were retrospectively analyzed, including their hormone levels and genetic test results.Results:A total of 95 patients with CHH were included. Among them, 25 were diagnosed before the age of 3, 37 between the ages of 3-14, and 33 were over 14 years old at the time of first diagnosis. The primary manifestations were micropenis(95 cases, 100%) and cryptorchidism(46 cases, 48.5%). The incidence of cryptorchidism was the lowest in the group over 14 years of age. Hormonal analysis revealed that the peak levels of LH following statin B and GnRH stimulation, the peak levels of FSH after GnRH stimulation, and testosterone levels following hCG stimulation were the highest in the infant group. Genetic analysis identified 20 CHH-related genes in 61 out of 77 cases.Double-gene mutation accounted for 7.8%(6/77) and triple-gene mutation accounted for 3.9%(3/77). The most common mutations were FGFR1(18/77, 23.4%), CHD7(12/77, 15.6%), PROKR2(11/77, 14.3%) and ANOS1(6/77, 7.8%). The incidence of cryptorchidism in these four genotypes was 50%, 75%, 45.5% and 83.3%, respectively. The incidence of testicular dysfunction was 22.2%, 16.7%, 27.3%, and 16.7%, respectively, with no statistical significance.Conclusion:The primary manifestation of CHH is micropenis and cryptorchidism. In children with CHH, the incidence of testicular Leydig cell and Sertoli cell dysfunction increased with age in CHH children. FGFR1, CHD7, PROKR2 and ANOS1 were common variants of CHH.
