ECLAMC Study: prevalence patterns of hypospadias in South America: multi-national analysis over a 24-year period

ABSTRACT Objective To evaluate prevalence trends of hypospadias in South-America it is essential to perform multicenter and multinational studies with the same methodology. Herein we present systematic data as part of an international multicenter initiative evaluating congenital malformations in South America over a 24-year period. Materials and Methods A nested case-control study was conducted using the Latin American Collaborative Study of Congenital Malformations (ECLAMC), between January 1989 and December 2012. Cases were stratified as isolated (IH) and non-isolated hypospadias (NIH). Global prevalence was calculated and discriminated by country. Associations between birth weight and gestational age, and NIH distribution by associated abnormality and severity of hypospadias, were analyzed. Results A total of 159 hospitals from six countries participated, reporting surveillance on 4.020.384 newborns. A total of 4.537 hypospadias cases were detected, with a global prevalence of 11.3/10.000 newborns. Trend analyses showed in Chile, Brazil and Uruguay a statistically significant increase in prevalence. Analysis of severity and associated anomalies did not to find an association for distal cases, but did for proximal (RR=1.64 [95% CI=1.33-2.03]). Conclusion This is one of only a few Latin American multicenter studies reporting on the epidemiology of hypospadias in South America in the last two decades. Our data adds to evidence suggesting an increase in some countries in the region at different times. There were also variations in prevalence according to severity. This study adds to literature describing associated anomalies at a hospital-based level.

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB / Auditory findings and electrophysiologics in individuals with G/BBB syndrome

A síndrome G/BBB é uma condição rara, caracterizada por hipertelorismo, fissura de lábio e palato e hipospádia. Não foram encontrados trabalhos sobre a audição em indivíduos com esta síndrome. OBJETIVO: Investigar a função auditiva em pacientes com síndrome G/BBB quanto à ocorrência ou não de perda auditiva e a condução nervosa auditiva periférica e central. MATERIAL E MÉTODO: Catorze pacientes de 7 a 34 anos, do gênero masculino, com a síndrome G/BBB, foram avaliados por meio de otoscopia, audiometria, timpanometria e potenciais evocados auditivos de tronco encefálico (PEATE). Forma de Estudo: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 12 (66,7 por cento) pacientes da amostra e alterados em dois (33,3 por cento), sendo um com perda condutiva e um neurossensorial. Quanto ao PEATE, foram encontrados: latências absolutas da onda I normais em todos os pacientes, aumento das latências absolutas da onda III e V em dois e seis pacientes respectivamente; latências interpicos I-III, III-V e I-V aumentadas em quatro, três e oito pacientes, respectivamente. CONCLUSÃO: Perdas auditivas periféricas podem ocorrer na síndrome G/BBB. Há evidências de comprometimento das vias auditivas centrais em nível do tronco encefálico. Estudos com exames de imagem são necessários para maior clareza dos achados clínicos.

The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. AIM: To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory nerve conduction. METHODS: Fourteen male patients aged 7-34 years with the G/BBB syndrome were assessed by otoscopy, audiometry, tympanometry and evoked auditory brainstem response (ABR). Model: A retrospective clinical series study. RESULTS: Audiometric thresholds were normal in 12 (66.7 percent) of the sample and altered in two (33.3 percent), one with conductive and one with sensorineural loss. ABR resuts were: all patients had normal absolute wave I latencies; absolute wave III and V latencies were increased in two and six patients, respectively; interpeak latencies I-III, IV and V interpeak latencies were increased in four, three and eight patients respectively. CONCLUSION: Hearing loss can occur in the G/BBB syndrome. There is evidence of central auditory pathway involvement in the brainstem. Imaging studies are needed to clarify the clinical findings.