Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system

Ilanna Fragoso Peixoto Gazzaneo,Camila Maia Costa De Queiroz,Larissa Clara Vieira Goes,Victor José Correia Lessa,Reinaldo Luna De Omena Filho,Diogo Lucas Lima Do Nascimento,Reginaldo José Petroli,Susane Vasconcelos Zanotti,Isabella Lopes Monlleó

doi:10.1016/j.rppede.2015.06.024

Abstract

ObjectiveTo describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. MethodsCross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype, hormone levels and genitourinary ultrasound for basic evaluation. Laparoscopy, gonadal biopsy and molecular studies were performed in specific cases. Patients with genitourinary malformations were classified as genitourinary anomalies (GUA), whereas the others, as Disorders of Sex Differentiation (DSD). Chi-square, Fisher and Kruskal–Wallis tests were used for statistical analysis and comparison between groups. Results80 subjects met the inclusion criteria, 91% with DSD and 9% with isolated/syndromic GUA. The age was younger in the GUA group (p<0.02), but these groups did not differ regarding external and internal genitalia, as well as karyotype. Karyotype 46,XY was verified in 55% and chromosomal aberrations in 17.5% of cases. Ambiguous genitalia occurred in 45%, predominantly in 46,XX patients (p<0.006). Disorders of Gonadal Differentiation accounted for 25% and congenital adrenal hyperplasia, for 17.5% of the sample. Consanguinity occurred in 16%, recurrence in 12%, lack of birth certificate in 20% and interrupted follow-up in 31% of cases. ConclusionsPatients with DSD predominated. Ambiguous genitalia and abnormal sexual differentiation were more frequent among infants and prepubertal individuals. Congenital adrenal hyperplasia was the most prevalent nosology. Younger patients were more common in the GUA group. Abandonment and lower frequency of birth certificate occurred in patients with ambiguous or malformed genitalia. These characteristics corroborate the literature and show the biopsychosocial impact of genitourinary anomalies.

Highlights

Genitourinary abnormalities (GUA) represent 35---45% of birth defects and include a wide range of structural abnormalities of the urinary and reproductive tracts, whose collective occurrence reflects their embryological origin and common genetic control.1---3 The clinical spectrum extends from minor anomalies such as glandular hypospadias to severe conditions such as bladder exstrophy
With the exception of minor abnormalities, such as isolated hypospadias with a prevalence of 1:250 live births, some disorders may be as rare as 1:100,000, as in cloacal exstrophy.[12,13]
In the SDD group, a global prevalence of 1---2:10,000 births is assumed,[2,4,9,11] which put these conditions in the group of so-called rare diseases, recent focus of health care policies in genetics in the National Health System (Sistema Único de Saúde --- SUS).[14]

Summary

Introduction

Genitourinary abnormalities (GUA) represent 35---45% of birth defects and include a wide range of structural abnormalities of the urinary and reproductive tracts, whose collective occurrence reflects their embryological origin and common genetic control.1---3 The clinical spectrum extends from minor anomalies such as glandular hypospadias to severe conditions such as bladder exstrophy. Genitourinary abnormalities (GUA) represent 35---45% of birth defects and include a wide range of structural abnormalities of the urinary and reproductive tracts, whose collective occurrence reflects their embryological origin and common genetic control.1---3. The clinical presentation may be isolated or associated with other anatomical defects and present syndromic conditions. With the exception of minor abnormalities, such as isolated hypospadias with a prevalence of 1:250 live births, some disorders may be as rare as 1:100,000, as in cloacal exstrophy.[12,13] In the SDD group, a global prevalence of 1---2:10,000 births is assumed,[2,4,9,11] which put these conditions in the group of so-called rare diseases, recent focus of health care policies in genetics in the National Health System (Sistema Único de Saúde --- SUS).[14]

Results

Discussion

Conclusion