Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

Tambo, FF Mouafo; Dahoun, Sophie; Kamadjou, Cyril; Makon, AS Nwaha; Fossi, G; Andze, OG; Sosso, MA; Mure, Pierre-Yves

doi:10.4103/0189-6725.187822

Cited by 4 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Fourteen papers reported on dysmorphology or genetics [ 42 , 56 , 59 , 103 , 120 , 128 , 133 , 170 , 210 , 212 , 224 , 246 , 271 ]. These studies undertook detailed examinations of babies with CA to understand the range of dysmorphologies, and the associations between different anomalies.…”

Section: Resultsmentioning

confidence: 99%

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

Leke,

Malherbe,

Kalk

et al. 2023

PLOS Glob Public Health

View full text Add to dashboard Cite

The aim of this scoping review was to determine the scope, objectives and methodology of contemporary published research on congenital anomalies (CAs) in sub-Saharan Africa (SSA), to inform activities of the newly established sub-Saharan African Congenital Anomaly Network (sSCAN). MEDLINE was searched for CA-related articles published between January 2016 and June 2021. Articles were classified into four main areas (public health burden, surveillance, prevention, care) and their objectives and methodologies summarized. Of the 532 articles identified, 255 were included. The articles originated from 22 of the 49 SSA countries, with four countries contributing 60% of the articles: Nigeria (22.0%), Ethiopia (14.1%), Uganda (11.7%) and South Africa (11.7%). Only 5.5% of studies involved multiple countries within the region. Most articles included CA as their primary focus (85%), investigated a single CA (88%), focused on CA burden (56.9%) and care (54.1%), with less coverage of surveillance (3.5%) and prevention (13.3%). The most common study designs were case studies/case series (26.6%), followed by cross-sectional surveys (17.6%), retrospective record reviews (17.3%), and cohort studies (17.2%). Studies were mainly derived from single hospitals (60.4%), with only 9% being population-based studies. Most data were obtained from retrospective review of clinical records (56.1%) or via caregiver interviews (34.9%). Few papers included stillbirths (7.5%), prenatally diagnosed CAs (3.5%) or terminations of pregnancy for CA (2.4%).This first-of-a-kind-scoping review on CA in SSA demonstrated an increasing level of awareness and recognition among researchers in SSA of the contribution of CAs to under-5 mortality and morbidity in the region. The review also highlighted the need to address diagnosis, prevention, surveillance and care to meet Sustainable Development Goals 3.2 and 3.8. The SSA sub-region faces unique challenges, including fragmentation of efforts that we hope to surmount through sSCAN via a multidisciplinary and multi-stakeholder approach.

show abstract

Section: Resultsmentioning

confidence: 99%

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

Leke,

Malherbe,

Kalk

et al. 2023

PLOS Glob Public Health

View full text Add to dashboard Cite

show abstract

“…1 MGD falls under the umbrella of DSD and is rare, with an incidence of 1.5 in 10,000 births. 2 Imaging evaluation of patients with suspected DSD includes ultrasound, voiding cystourethrogram, genitography, and MRI. These allow for the identification of gonads, internal sex organs, and their anatomical communications.…”

Section: Discussionmentioning

confidence: 99%

Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation

Fine

Ford

Trotter

et al. 2021

Baylor University Medical Center Proceedings

View full text Add to dashboard Cite

Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development. Also known as 45XO/46XY mosaicism, MGD is characterized by highly variable sexual phenotypes and an increased risk of gonadal malignancy. Patients with MGD often have a unilateral descended gonad and contralaterally either a streak gonad or no gonad. We present the case of a patient with a dysgenetic, nonpalpable gonad with imaging features of an ovotestis. These imaging features are generally more indicative of ovotesticular disorder of sexual development (previously true hermaphrodite), which is a condition with low risk of gonadal malignancy. Further evaluation with histology and genetic analysis confirmed the diagnosis of MGD. It is important to diagnose MGD to allow for early operative intervention and screening for malignancy. KEYWORDS 45XO/46XY mosaicism; disorders of sexual development; mixed gonadal dysgenesis; ovotestis

show abstract

Robot-Assisted Laparoscopy in Differences of Sexual Development: Resection of Embryological Remnants

Sinatti

Spinoit²

2022

Minimally Invasive Techniques in Pediatric Urology

View full text Add to dashboard Cite

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

Cited by 4 publications

References 0 publications

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review

Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation

Robot-Assisted Laparoscopy in Differences of Sexual Development: Resection of Embryological Remnants

Contact Info

Product

Resources

About