Anorchia is a rare and often poorly understood disorder of sexual development. In the present case report, we used a multidisciplinary approach to diagnose a case of anorchia in a 30-month old dog. The diagnostic process began with gathering the dog medical history followed by a clinical visit with the patient, which included a general wellness examination as well as an examination of the genital system. As suggested in the relevant literature, the dog underwent an ultrasound and then computed tomography (CT) of the genital system, which confirmed the diagnosis of testicular agenesis. Genetic testing confirmed the male XY karyotype. Hormone testing also supported the diagnosis: testosterone and anti-Müllerian hormone levels were below their reference ranges, and luteinizing hormone (LH) was above 1 ng/mL. Following the diagnostic procedures suggested in the relevant literature, the present study confirms anorchia in the dog and describes a case of testicular agenesis in the canine species.
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http://dx.doi.org/10.1016/j.tcam.2021.100554 | DOI Listing |
Cureus
November 2024
Pediatric Surgery, Royal Hospital for Children, Glasgow, GBR.
The management of neonatal testicular torsion lacks consensus. Arguments in favor of emergency bilateral exploration and fixation include a salvage rate and the incidence of bilateral torsion. We performed a retrospective single-center analysis of all cases of neonatal torsion in our unit between 2012 and 2022 to assess whether our data supports this approach and to publish further data on a disease on which there remains a paucity.
View Article and Find Full Text PDFRadiol Technol
July 2024
Daniela Yuschenkoff, DVM, is veterinary resident at the Oklahoma City Zoo and Botanical Garden.
Background: This case describes a Reeves' muntjac deer () with a suspected undescended testicle or cryptorchidism. The cryptorchid testicle could not be palpated or visualized with sonography. Contrast-enhanced computed tomography (CT) imaging was performed to avoid an exploratory surgical operation, but no cryptorchid testicle was discovered.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2023
Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University; Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning city, Guangxi, China.
Rationale: Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD.
View Article and Find Full Text PDFEndocrinol Diabetes Metab Case Rep
April 2023
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Summary: Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene.
View Article and Find Full Text PDFUrology
June 2023
Pediatric Surgery Service, Hospital Provincial Neuquén, Neuquén. Argentina.
Polyorchidism is defined as the presence of 2 or more testes on the same side. A 7-year-old boy (46 XY) with multiple congenital abnormalities and nonpalpable bilateral gonads is presented. He underwent diagnostic laparoscopic surgery at 8 months old which revealed duplicated right testes and contralateral presence of persistent left Mullerian duct structures.
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