ABSTRACT
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
Subject(s)
Child , Female , Humans , Male , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics , China/epidemiology , Cryptorchidism/genetics , Disorders of Sex Development/genetics , Genital Diseases, Male , Genotype , Hypospadias/genetics , Membrane Proteins/genetics , Penis/abnormalities , Phenotype , Retrospective Studies , Steroid 21-Hydroxylase/geneticsABSTRACT
<p><b>OBJECTIVE</b>To discuss characters of proximal femoral nail and dynamic hip screw for treating type A1, A2, A3 of intertrochanteric fractures.</p><p><b>METHODS</b>We review 104 patients with intertrochanteic fractures, 33 patients were treated with proximal femoral nail (PFN), including 13 males and 20 females with an average age of 76 years (ranging from 63 to 87 years). 12 cases of type A1; 18 cases of type A2 and 3 cases of type A3; and 71 patients were treated with dynamic hip screw (DHS), including 29 males and 42 females with an average age of 74.5 years (ranging from 61 to 92 years), 32 cases of type A1, 34 cases of type A2 and 5 cases of type A3. Comparision in an average time of operations, the length of incision, blood loss, weight loading time and complications between two groups.</p><p><b>RESULTS</b>An average time of operation was (51.5 +/- 4.4) min in PFN; (68.8 +/- 5.9) min in DHS. The length of incision was (9.6 +/- 0.9) cm in PFN; (15.5 +/- 1.5) cm in DHS. The blood loss was (179.0 +/- 12.9) ml in PFN; (269.3 +/- 40.0) ml in DHS. Varus collapse was none in PFN, 1 case in DHS. The collodiaphyseal angle of 7 cases decreased in DHS. Lateral hip pain caused by proximal screw removal was 6 cases in PEN.</p><p><b>CONCLUSION</b>The therapeutic effect of DHS and PEN was primitively same in treating type A1 of intertrochanteric fracture. Operative injuries of PFN were less than that of DHS and anti-tonia was more stronger which is more suitable for type A2 and A3 of intertrochateric fractures.</p>