ABSTRACT
【Objective】 To explore the efficacy of Mathieu combined with tongue-shaped flap covering in children with distal hypospadias and micropenis head deformity. 【Methods】 The clinical data of 72 patients with distal hypospadias complicated with micropenis treated during Jan.2018 and Jun.2021 were retrospectively analyzed, including 35 patients who underwent modified Mathieu combined with tongue-shaped flap and external urethral orificium (study group), and 37 patients who underwent traditional Mathieu (control group). Urethral stricture, urethral fistula, urethral diverticulum and penile head cleft were compared between the two groups. 【Results】 Urinary fistula occurred in 2 cases (5.27%) and 9 cases (24.32%) in the study group and control group, respectively, the incidence being much lower in the study group (P=0.028). Urethral stricture occurred in 1 case (2.86%) and 1 case (2.70%) in the study group and control group, respectively; penile head dehiscence in 1 case (2.86%) and 3 cases (8.11%); urethral diverticulum in 0 case (0%) and 2 cases (5.41%). There were no significant differences between the two groups in the incidence of urethral stricture, urethral dehiscence and urethral diverticulum (P>0.05). 【Conclusion】 Mathieu combined with tongue-shaped flap covering to treat children with distal hypospadias with micropenis head deformity can reduce the incidence of postoperative complications, achieve high surgical satisfaction and appearance satisfaction in the first phase, reduce harm caused by surgery, and promote patients’ psychological health.
ABSTRACT
【Objective】 To investigate the clinical characteristics and molecular genetic mechanism of 46,XY complete gonadal dysplasia (46,XY CGD) caused by a new mutation of NR5A1 gene. 【Methods】 The clinical data of a female patient with 46 XY karyotype were retrospectively analyzed, and the whole exon group and mitochondrial group genes were detected. 【Results】 The clitoris was hypertrophic. The patient had both urethral orifice and vaginal orifice, and there was no common passage between them. Ultrasonography showed an unclear primordial uterus and bilateral ovaries. The gonad biopsy showed poorly developed testicular tissue. Karyotype was 46,XY. The detection of whole exon group and mitochondrial group genes indicated a new heterozygous missense mutation in NR5A1 gene on chromosome 9, and the variation information was c.205C>T:p. Arg69Cys. The mother did not carry the gene mutation. 【Conclusion】 The clinical manifestations of 46,XY CGD are diverse. NR5A1 gene mutation is one of the important causes, which provides a basis for the clinical diagnosis and pathogenesis of the disease.