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The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two copy number variation) have been previously reported. In these cases, the phenotype may range from a mild undervirilization to complete female external genitalia. The haploinsufficiency may be caused by a sequence variant or copy number variation (8p23 deletion). The aim of this study was to present two unrelated patients with DSD due to GATA-4 variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.

Objective The aim of this study was to assess the oxidative stress (OS) levels and dynamic thiol-disulfide balance in preterm newborns with bronchopulmonary dysplasia (BPD). Methods This prospective study included newborns separated into 2 groups, those with BPD (case) or without BPD (control). The 2 groups were compared by clinical and laboratory findings. The OS parameters total oxidant status (TOS), total antioxidant status (TAS), OS index (OSI), native thiol (NT), and total thiol were measured within the first day after birth. Oxygen requirements were measured using the fraction of inspired oxygen (FIO2) recorded in the first hour after birth/admission and the average FIO2 within 28 days of the birth. Results Infants diagnosed with BPD had a significantly lower gestational age and birth weight and a lower 5-min Apgar score (P < .05). Infants with BPD also had a higher rate of respiratory distress syndrome, rate of use of surfactant therapy, duration of ventilation therapy, and duration of hospital stay compared with control (P = .001, P = .001, P = .001, and P = .001, respectively). Plasma TAS and NT levels of newborns with BPD were significantly lower than newborns without BPD (P < .05). In the BPD group, plasma TOS and OSI levels were significantly higher than in the control group. Conclusion We found that OS was increased in newborns with BPD. The clinical significance of this study will provide the clinician with a different perspective on BPD by determining the dynamic thiol disulfide balance.

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Background Transient tachypnea of the newborn (TTN), which is the most common respiratory disease in the neonatal period, increases respiratory workload in newborns. We purposed to evaluate the oxidative stress (OS) status and thiol disulfide hemostasis in late preterm and term newborns with TTN in this study. Methods The study was carried out in a single-centre neonatal intensive care unit to investigate the effect of continuous airway positive pressure (CPAP) on the oxidative system in newborns with TTN. Thiol (native and total) and disulfide levels, total antioxidant and oxidant status (TAS/TOS) and Oxidative stress index (OSI) levels were measured. Results Total thiol levels measured before treatment was 429.5 (369.5–487) µmol/L in the late preterm group and 425 (370–475) µmol/L in the term group (p = 0.741). We found significant changes in TOS, OSI and TAS levels after CPAP treatment in the late preterm group (p < 0.001, p < 0.001, p = 0.012 respectively). It was also found that the disulfide level, which was 26.2 (19.2–31.7) before the treatment, decreased to 19.5 (15.5–28.75) after the treatment (p = 0.001) in late preterms. Conclusion CPAP treatment reduced the OS status burden associated with TTN in neonates. The late preterm newborns with TTN are more affected by OS and increased OS levels decrease with CPAP treatment.