Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings.

Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring indicator of DSD, but multiple genital anomalies should also raise a suspicion of DSD. This is a case report of a 15-year-6-month-old boy who presented during infancy with multiple genital anomalies requiring surgery. The diagnosis of ovotesticular DSD was missed until later in adolescence when he presented with progressive bilateral breast enlargement. Work-up revealed a 46, XX karyotype and dysgenetic testes, but functional ovarian tissue. The patient wanted to consider switching to a female gender but was constrained by psychosocial factors. Maintenance of a masculine phenotype was done using testosterone injections due to the relatively high cost of testosterone patches. Conclusion. Multiple genital anomalies should raise the suspicion of DSD, and prompt referral to an endocrinologist should be done before urogenital surgery and gender assignment are carried out.

Developing and implementing an interventional bundle to reduce mortality from gastroschisis in low-resource settings.

Background: Gastroschisis is associated with less than 4% mortality in high-income countries and over 90% mortality in many tertiary paediatric surgery centres across sub-Saharan Africa (SSA). The aim of this trial is to develop, implement and prospectively evaluate an interventional bundle to reduce mortality from gastroschisis in seven tertiary paediatric surgery centres across SSA. Methods: A hybrid type-2 effectiveness-implementation, pre-post study design will be utilised. Using current literature an evidence-based, low-technology interventional bundle has been developed. A systematic review, qualitative study and Delphi process will provide further evidence to optimise the interventional bundle and implementation strategy. The interventional bundle has core components, which will remain consistent across all sites, and adaptable components, which will be determined through in-country co-development meetings. Pre- and post-intervention data will be collected on clinical, service delivery and implementation outcomes for 2-years at each site. The primary clinical outcome will be all-cause, in-hospital mortality. Secondary outcomes include the occurrence of a major complication, length of hospital stay and time to full enteral feeds. Service delivery outcomes include time to hospital and primary intervention, and adherence to the pre-hospital and in-hospital protocols.  Implementation outcomes are acceptability, adoption, appropriateness, feasibility, fidelity, coverage, cost and sustainability. Pre- and post-intervention clinical outcomes will be compared using Chi-squared analysis, unpaired t-test and/or Mann-Whitney U test. Time-series analysis will be undertaken using Statistical Process Control to identify significant trends and shifts in outcome overtime. Multivariate logistic regression analysis will be used to identify clinical and implementation factors affecting outcome with adjustment for confounders. Outcome: This will be the first multi-centre interventional study to our knowledge aimed at reducing mortality from gastroschisis in low-resource settings. If successful, detailed evaluation of both the clinical and implementation components of the study will allow sustainability in the study sites and further scale-up. Registration: ClinicalTrials.gov Identifier NCT03724214.

Malformations: A 5-year review of the presentation and management in a Teaching Hospital in Ghana.

BACKGROUND: Anorectal malformations (ARMs) are congenital defects affecting the distal gastrointestinal tract and anus with frequent fistulous connections to the genitourinary system. The spectrum of the disease is considerably wide, and thus, an individualised approach to its management is required. There are few recent publications about the burden of this malformation in Africa and the outcome of surgical intervention. We present our experiences with the management of ARM, peculiar challenges and the outcome at a tertiary hospital catering for the Northern and Central parts of Ghana. MATERIALS AND METHODS: This was a retrospective folder review of children with ARM at the Paediatric Surgical Unit of Komfo Anokye Teaching Hospital, Kumasi, Ghana, from 2011 to 2015. The data extracted included diagnosis, associated features, initial and definitive surgical treatment and post-operative complications. RESULTS: Of the 53 records that were conclusively retrieved, the sex ratio was 1:1. The median age of presentation was 4.5 days (neonates), 4.5 months (infants) and 1.6 years (older children). There were 12 (44%) rectoperineal and 18 (69%) rectovestibular fistulas, representing the most common types of ARM in boys and girls, respectively. Posterior sagittal anorectoplasty and abdominoperineal pull-through were the corrective procedures performed. The overall complication rate was <10%. CONCLUSION: Our patients generally presented later than their Western counterparts, making a single-stage correction rare. The types of ARM documented in our study suggest the existence of a geographical variation.