Clinical, genetic, and pathological analysis in 165 children with disorders of sex development / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD).@*METHODS@#A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022.@*RESULTS@#Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants.@*CONCLUSIONS@#Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.

Genetic polymorphism of surfactant protein A in neonatal respiratory distress syndrome / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the characteristics of gene expression of surfactant protein A in Chinese premature infants and the association between surfactant protein A and the risk of neonatal respiratory distress syndrome (RDS).</p><p><b>METHODS</b>Vein-blood samples (2 mL) from 18 Chinese premature infants with RDS and 28 controls were assayed for SP-A genotypes 6A2, 6A3, 1A0 and 1A1 by SSCP.</p><p><b>RESULTS</b>The frequency of allele distribution of SP-A1 allele 6A2 and 6A3 was 0.50 and 0.056 respectively in the RDS group and was 0.214 and 0.107 in the control group. Compared with the controls, SP-A1 allele 6A2 was over-represented in the RDS group (P<0.05). In contrast, SP-A1 allele 6A3 tended to be under-represented in the RDS group but there was no statistical difference when compared with the controls. The frequency of allele distribution of SP-A2 allele 1A0 and 1A1 was 0.722 and 0.667 respectively in the RDS group and was 0.679 and 0.821 respectively in the control group. There were no significant differences in the distribution frequency of SP-A2 allele 1A0 and 1A1 between the two groups. In the infants born at gestation >32 weeks, SP-A1 allele 6A2 was over-represented in the RDS group compared with the control group (frequency: 0.56 vs 0.15; P<0.05).</p><p><b>CONCLUSIONS</b>The frequency of SP-A1 allele 6A2 and 6A3 was low, in contrast, the frequency of SP-A2 allele 1A0 and 1A1 was high in normal Chinese premature infants. SP-A1 allele 6A2 may be a susceptible gene for RDS.</p>