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Abstract Context Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. Objectives To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 months and correlate obtained scores with anogenital distances (AGDs). Design, Setting A European multicenter (n = 8) validation study was conducted from July 2016 to July 2018. Patients and Methods EGS is based on the external masculinization score but uses a gradual scale from female to male (range, 0–12) and terminology appropriate for both sexes. The reliability of EGS and AGDs was determined by the interclass correlation coefficient (ICC). Cross-sectional data were obtained in 686 term babies (0–24 months) and 181 preterm babies, and 111 babies with atypical genitalia. Results The ICC of EGS in typical and atypical genitalia is excellent and good, respectively. Median EGS (10th to 90th centile) in males < 28 weeks gestation is 10 (8.6–11.5); in males 28–32 weeks 11.5 (9.2–12); in males 33–36 weeks 11.5 (10.5–12) and in full-term males 12 (10.5–12). In all female babies, EGS is 0 (0-0). The mean (SD) lower/upper AGD ratio (AGDl/u) is 0.45 (0.1), with significant difference between AGDl/u in males 0.49 (0.1) and females 0.39 (0.1) and intermediate values in differences of sex development (DSDs) 0.43 (0.1). The AGDl/u correlates with EGS in males with typical genitalia and in atypical genitalia. Conclusions EGS is a reliable and valid tool to describe external genitalia in premature and term babies up to 24 months. EGS correlates with AGDl/u in males. It facilitates standardized assessment, clinical decision-making and multicenter research.

Clostridium difficile infection is a rare event in newborn. Since several studies show a high rate of asymptomatic neonatal colonization by non-toxigenic Clostridium strains, C. difficile is usually not searched in infants and children affected by bloody diarrhea and younger than 12 months. Nevertheless, Clostridium difficile infection should be suspected in patients with bloody diarrhea and other comorbidities. The long term hospitalization and the prolonged exposure to broad-spectrum antibiotic therapy, are also important risk factors for intestinal infection. We present the case of a 10-day newborn with thrombocytopenia associated with rectorrhagia and positivity of inflammation indices. Transfusion of platelets and immunoglobulins was performed with platelet normalization and empiric antibiotic therapy was practiced (ampicillin and gentamicin). A sudden clinical worsening occurred after ten day: he developed severe bloody diarrhea with systemic failure. Laboratory tests showed: neutrophilic leukocytosis,thrombocytosis, anemia, an important increase in inflammation indices. Several abdomen X-ray showed moderate gaseous distension of some intestinal loops with presence of hydroaerial levels. Abdominal ultrasound revealed diffuse thickening of the colon walls (a sign of colitis). The search of C. difficile in stools sample was positive for C. difficile producer of Toxin A and toxin B Enzym Immunoassay (EIA). The infant was successfully treated with vancomycin and metronidazole, without relapsing.

PurposeTo evaluate minipuberty (MP) in small for gestational age (SGA) infants, both preterm and full-term, during the first year of life.Methods33 SGA healthy newborns (group A), 21 of which full-term (subgroup A1) and 12 preterm (A2) were enrolled. Control group (B) consisted of 27 AGA, 17 full-term (subgroup B1) and 10 preterm (B2) infants. Growth parameters, FSH, LH, and Estradiol (E2) or Testosterone (T) serum levels were monitored at 3, 6, and 12 months.ResultsThe gonadotropin surge reached greater increase of LH in males at 3 months and FSH in females at 3, 6 and 12 months (p < 0.001). In male infants: T at 3 months was higher in subgroup A2 vs A1(p = 0.001), and correlated negatively with gestational age (GA, p < 0.005), length and weight at birth (p < 0.05); LH was higher in subgroup B2 vs B1 at 6 months (p = 0.003), and in group A vs B at 12 months (p = 0.03). Females displayed higher E2 at 6 months in B2 vs B1 (p < 0.05), negatively correlated with GA and weight gain (p < 0.05); LH at 6 months was increased in A2 vs A1 (p = 0.03). Overall, preterm males displayed higher T at 3 months (p = 0.001), LH at 3, 6 and 12 months (p < 0.05), and LH/FSH ratio at 6 months (p = 0.001). Preterm females exhibited increased LH/FSH ratio at 3 and 6 months (p < 0.05).ConclusionsIrrespectively of GA, MP occurred with a typical sexual dimorphism and exhibited sex-specific correlations between hormones and perinatal parameters. SGA condition and prematurity seemed to enhance and protract MP over time in both sexes.

Pediatric patients with beta-thalassemia (BT) face unique immunologic challenges due to chronic transfusions and viral exposure. Hepatitis C virus (HCV), a common infection in polytransfused individuals, may influence immune polarization. However, the combined effect of chronic HCV and host immunogenetics on allergic sensitization remains incompletely understood. To assess total serum IgE levels and allergic manifestations in HCV-positive vs. HCV-negative BT patients, and explore associations with common polymorphisms in IL10, TLR7, IL4, and IFNG genes Methods: This cross-sectional observational study enrolled 46 BT patients (37 HCV-positive, 9 HCV-negative) and 50 healthy controls. Clinical allergy history, total IgE levels (ELISA), and skin prick tests (SPT) for aeroallergens were collected. Genotyping for IL10 -1082, TLR7 rs179008, IL4 -589, and IFNG +874 polymorphisms was performed. Associations between genotypes, HCV status, and IgE levels were analyzed descriptively due to small sample size Results: HCV-positive BT patients had lower mean IgE levels (18.73 ± 4.2 IU/mL) and fewer reported allergic symptoms (21.6%) compared to HCV-negative counterparts (118.76 ± 7.9 IU/mL; 55.5%). The IL10 -1082 AA and TLR7 rs179008 TT genotypes were more common in the HCV-positive group and were associated with lower IgE levels. No associations were noted for IL4 or IFNG variants. Splenectomy appeared to further modify IgE levels in HCV-negative patients. Due to limited power and absence of multivariate analysis, findings are exploratory. These preliminary observations may inform future studies of immune deviation in chronically infected pediatric cohorts. Chronic HCV infection may contribute to immune tolerance and reduced allergic expression in BT patients, potentially modulated by IL10 and TLR7 genotypes. Further studies with functional immune profiling and larger cohorts are required.

Minipuberty (MP) consists of a postnatal activation of the hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically during the first months of life. In preterm infants, MP might lead to stronger hormonal stimulation, but specific literature is still scarce. We present the case of a pair of monochorionic diamniotic twin girls, born at 31 weeks of gestation and adequate for gestational age (AGA). At one month old, one of the twins presented with severe edema in the vulva and swelling of the major and minor labia. Laboratory evaluations highlighted increased LH, FSH and estradiol serum concentration. Pelvic ultrasonography and MRI showed a pubertal pattern. Brain imaging was unremarkable. During the one-year follow-up, a decreasing trend of hormonal levels was detected, together with the spontaneous regression of clinical and sonographic pubertal signs. The same hormonal workup was also performed on the other twin, who displayed mildly elevated gonadotropins and estradiol, without evidence of pubertal clinical signs. This case suggests that the amplitude of postnatal HPG activation might be exacerbated in preterm infants, with evidence of puberty changes in clinical, laboratory and sonography data. The spontaneous resolution, together with the exclusion of other causes of precocious puberty, is suggestive for MP of infancy.