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Abstract Background we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel. Methods We report our experience with patients harboring mosaic monosomy X and Y chromosome material diagnosed by blood cells karyotypes and cared for in our department from 2005 to 2022. Results We have included five infants in our study. The current average age was 8 years. In four cases, the diagnosis was still after born and it was at the age of 15 years in one case. Physical examination revealed a variable degree of virilization, ranging from a normal male phallus with unilateral ectopic gonad to ambiguous with a genital tubercle and bilateral not palpable gonads in four cases and normal female external genitalia in patient 5. Karyotype found 45, X/46, XY mosaicism in patient 1 and 2 and 45, X/46, X, der (Y) mosaicism in patient 3, 4 and 5. Three cases were assigned to male gender and two cases were assigned to female. After radiologic and histologic exploration, four patients had been explored by laparoscopy to perform gonadectomy in two cases and Mullerian derivative resection in the other. Urethroplasty was done in two cases of posterior hypospadias. Gender identity was concordant with the sex of assignment at birth in only 3 cases. Conclusion Because of the phenotypic heterogeneity of this sexual disorders and the variability of its management care, then the decision should rely on a multidisciplinary team approach.

Background: Inguinal hernia (IH) is a prevalent condition in children necessitating surgical repair. However, determining the optimal timing (early or delayed) of inguinal herniotomy in neonates and preterm infants remains debatable. While open herniotomy traditionally serves as the standard inguinal hernia repair (IHR) procedure, laparoscopic repair has gained traction in recent decades. Our study aims to scrutinize both the optimal timing and approach to inguinal hernia repair in neonates and preterm infants. Methods: We conducted a literature review on surgical repair of IH in neonates and preterm infants published between 1999 and 2024. Results: Twenty studies met the inclusion criteria for this review. All studies were retrospective, predominantly originating from Europe and the United States. Thirteen out of the 20 studies focused solely on preterm infants. Patient sample sizes ranged from 30 to 8037, totaling 14533 patients. Most studies indicate that delaying inguinal hernia repair in newborns and preterm infants does not increase the risk of incarceration or recurrence. Moreover, postponing repair until after discharge from the NICU correlates with a shorter postoperative hospital stay and notably diminishes the risk of long-term postoperative ventilator dependence, thereby mitigating potential perioperative complications. Hence, this approach seems safe for certain patients whose families can reliably access appropriate surgical care. Conclusion: Significant disparities exist in the timing of inguinal hernia repair for newborns and preterm infants across various pediatric surgery centers. Current evidence suggests delayed inguinal hernia repair may be a viable option for selected patients. Regarding the optimal approach in this population, laparoscopy appears safe and effective.

With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now being used more frequently in neonatal intensive care. One of the life-threatening complications is pericardial effusion and cardiac tamponade; however, it is potentially reversible when it is caught in time. The authors present a case of cardiac tamponade following umbilical venous catheterisation in a neonate. The patient was diagnosed at the appropriate time by echocardiography and urgent pericardiocentesis proved lifesaving.