Genital Malformations in Children With VACTERL - Has Time Come to Include "G" in the Acronym?

BACKGROUND: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. METHOD: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. RESULTS: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05). CONCLUSION: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies.

Treatment with oestrogen or manual separation for labial adhesions - initial outcome and long-term follow-up.

BACKGROUND: Topical oestrogen and manual separation are the main treatments for labial adhesions. The aim was to evaluate treatment of labial adhesions and compare the outcome of topical oestrogen treatment with that of manual separation. METHOD: All girls aged 0-12 years admitted to a tertiary centre for paediatric surgery for labial adhesions were included. The study design was dual: The first part was a retrospective chart review of the treatment success according to the medical charts. The second part was a cross-sectional parent-reported long-term outcome study (> 6 months after last treatment finished). RESULTS: In total 71 patients were included and the median follow-up time for the chart study was 84 (6-162) months after treatment with oestrogen or manual separation. Oestrogen was the first treatment for 66 patients who had an initial successful rate of 62% but this was followed by recurrences in 44%. Five patients had manual treatment as their first treatment and they had a 100% initial success rate followed by recurrences in 20%. Therefore, for the first treatment course there was a final success rate of 35% for oestrogen and 80% for manual separation (p = 0.006). Corresponding final success rates including all consecutive treatments over the study period were 46/130 (35%) for oestrogen and 21/30 (70%) for manual separation (p = 0.001). The success rate for oestrogen did not differ if treatment was given in a course length of 0-4 weeks (39% success) or > 4 weeks (32% success) (p = 0.369). In the parent-reported long-term outcome study the response rate was 51% (36/71). Parents reported that recurrences of adhesions after last prescribed/performed treatment were frequent: in total 25% of patients still had adhesions corresponding to 8/29 (29%) of those whose last treatment was oestrogen and 1/9 (11%) of those whose last treatment was manual separation. CONCLUSION: Due to the results recurrences are common after both oestrogen and manual separations. However, the overall final outcome after manual separation seems to be more successful when compared to that of topical oestrogen treatment.

Postpubertal examination after hypospadias repair is necessary to evaluate the success of the primary reconstruction.

INTRODUCTION: Hypospadias is one of the most common congenital anomalies. There are many studies describing successful initial repair, but there are few studies examining long-term result. The aims of this study were to evaluate our patients that have been reconstructed for hypospadias and undergone final clinical examination after puberty and to assess how long clinical follow-up time is warranted after hypospadias repair. PATIENTS AND METHODS: A standard protocol, with visits at ages 7, 10, 13 and a final clinical examination at the age of 16, was followed. To objectify our long-term functional and aesthetic results, Hypospadias Objective Scoring Evaluation (HOSE) was used. RESULTS: A total of 114 boys reconstructed between 1989 and 2009 had undergone final clinical examination. Seventy-nine were classified as degree I, 25 as degree II, 6 degree III, 3 as degree IV, and 1 boy could not be classified retrospectively. Sixty-seven boys were operated on in stages according to Byars, 25 according to Mathieu, and 14 according to Scuderi. Only eight patients needed release of chordee and realignment of skin. Ten boys needed closure of fistulas and strictures had to be operated on in four cases. At the concluding visit, 86% of the patients had an excellent result according to the total HOSE score. It was noted that six patients had developed an incurvation between the prepubertal and postpubertal checkup. CONCLUSION: It is important that the boys are followed according to a planned standardized protocol until they have passed puberty as incurvation may occur during puberty.