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

Gazzaneo, Ilanna Fragoso Peixoto; Queiroz, Camila Maia Costa de; Goes, Larissa Clara Vieira; Lessa, Victor José Correia; Filho, Reinaldo Luna de Omena; Nascimento, Diogo L.L. do; Petroli, Reginaldo José; Zanotti, Susane Vasconcelos; Monlleó, Isabella Lopes

doi:10.1016/j.rppede.2015.06.024

Cited by 2 publications

(5 citation statements)

References 27 publications

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“…In their study, undescended testes were present in 28.75%, similar to our population (29.10%). 22 Several factors, such as low birth weight and multiple gene polymorphisms, have been related to less pronounced forms of undervirilization (isolated or combined cryptorchidism and hypospadias). 23 Our data showed that multiple congenital anomalies (32.73%) were the most frequently associated health condition, similar, to the findings of Paris, et al 24 The neonatal period (36%) was the most common time when DSDs were detected among our patients, similar to previous studies.…”

Section: Discussionmentioning

confidence: 99%

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Guerrero-Gonzalez¹,

Estrada²

2020

Acta Med Philipp

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Background. Disorders of Sex Development (DSD) are conditions that arise from an abnormality of the typical structural, chromosomal and/or gonadal characteristics of sex development. The incidence of DSD is not well established in the Philippines and there is no published local data. The complex nature of DSD requires streamlined multidisciplinary team management and guidelines from the 2006 Consensus meeting have become the standard of care for patients.Objective. The study describes the phenotype, biochemical, diagnostic and management profiles of patients with Disorders of Sex Development (DSD) excluding congenital adrenal hyperplasia (CAH) at the Philippine General Hospital, a tertiary care medical facility.Methods. Medical records of patients with DSD seen at the Division of Clinical Genetics from 2012-2016 were reviewed. Histories, demographic profiles, clinical features, co-existing health conditions, laboratory, imaging results, and interventions (medical or surgical) were recorded into a clinical report form.Results. Fifty-five (55) patient charts were included of all the patients with DSD listed in the registry. The neonatal period was the most common time DSD was first noted (69.09%). Most (58.18%) were assigned the male sex. The most common genital anomalies were hypospadias (45.45%), cryptorchidism (21.82%), and micropenis (12.73%). Associated health conditions included multiple congenital anomalies (32.73%), genitourinary with or without gastrointestinal anomalies (16.36%) and dysmorphic features (12.73%). Among 28patients with karyotypes, there were 12 patients with sex chromosome DSD; two 46, XX DSD and fourteen 46, XY DSD. Four patients were prescribed hydrocortisone, three of whom had higher levels of 17-OH progesterone beyond cut-off level (2 preterm, 1 full term) while 1 full term presented with genital ambiguity; one case of Klinefelter syndrome was given testosterone replacement. Ten patients underwent corrective surgery for urogenital anomalies. Repair of hypospadias was the most common procedure. Repairs of associated anomalies (neurologic, cardiac, gastrointestinal, genitourinary) were done in 6 patients.Conclusion. Complete history, meticulous physical examination and comprehensive investigations are important for the confirmation of DSDs. Uniform classification, use of standardized terminology, and proper documentation of findings are crucial for the integrated and appropriate management of these patients.

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Section: Discussionmentioning

confidence: 99%

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Guerrero-Gonzalez¹,

Estrada²

2020

Acta Med Philipp

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“…Congenital anomalies of the urogenital system are some of the most common birth defects affecting newborns and encompass a wide range of structural abnormalities of the kidneys, collecting systems, urinary bladder, urethra, testes, scrotum and penis [3]. The clinical spectrum of congenital genitourinary anomalies ranges from minor anomalies such as glanular hypospadias to severe conditions such as cloacal exstrophy: It may be isolated or associated with other anatomic defects (syndromic) [4]. The etiology may be genetic or non-genetic, or may be unknown [5].…”

Section: Introductionmentioning

confidence: 99%

“…The etiology may be genetic or non-genetic, or may be unknown [5]. There are wide variations in the incidence of congenital anomalies of the urogenital system due to clinical heterogeneity, use of different inclusion criteria and coding [4].…”

Section: Introductionmentioning

confidence: 99%

“…Severe congenital genitourinary anomalies may be associated with stillbirths and spontaneous abortions [4]. Impaired renal function is a common sequel of congenital urinary anomalies resulting from kidney malfunction [4]. Prenatal diagnosis congenital genitourinary and prompt treatment in the early postnatal period.…”

Section: Introductionmentioning

confidence: 99%

“…Prenatal diagnosis congenital genitourinary and prompt treatment in the early postnatal period. Congenital urogenital abnormalities are clinical and epidemiological challenge; its management should be multidisciplinary due to the complex surgical, endocrine, genetic, social, ethical and psychological issues [4,6]. The aim of this study was to evaluate the prevalence and types of observable congenital genitourinary anomalies seen in the 2 teaching hospitals in Enugu, Nigeria.…”

Section: Introductionmentioning

confidence: 99%

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Profile of Congenital Genitourinary Anomalies in the Two Teaching Hospitals in Enugu, Nigeria

Emeka¹,

Ikemefuna

2021

BJSTR

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Background: Congenital anomalies of the urogenital system are some of the most common birth defects affecting children. The aim of this study was to evaluate the prevalence and types of congenital genitourinary anomalies seen in the 2 teaching hospitals in Enugu, Nigeria. Materials and Methods:This was an observational study carried out on babies at the two teaching hospitals in Enugu. The newborns were examined for congenital genitourinary anomalies and the study covered a period of 5 years.Results: There were 17,241 babies delivered in the 2 teaching hospitals during the study period. Overall, 328 babies had at least one congenital anomaly which gave an overall incidence of all congenital anomalies of 1.9% or 19 babies per 1000 live births. Out of the 328 babies that had congenital anomalies, 93 babies had a genitourinary anomaly. This gave an incidence of 0.5% or 5 babies per 1000 live births. There was female predominance and majority of the babies were preterm and weighed less than 2.5 kilograms. Hypospadias was the most common genitourinary anomaly and only a few of the anomalies were diagnosed prenatally. Half of the mothers took herbal concoction during their pregnancy and about one-fifth of them had gestational diabetes/ hypertension. Conclusion:Genitourinary anomaly is a common birth defect that is may be associated with some morbidity. Hypospadias is the most common abnormality in the present study and half of the mothers took herbs.

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

Cited by 2 publications

References 27 publications

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Disorders of Sex Development: A 5-year Review of Patients at a Tertiary Care Hospital

Profile of Congenital Genitourinary Anomalies in the Two Teaching Hospitals in Enugu, Nigeria

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