Abstract
Hypospadias is a congenital defect in which the opening of the urethra is located on the ventral side of the penis proximal to the tip of the glans penis. The cause of hypospadias is still not clear and believed to have several factors. Hypospadias occurs due to disruption of urethral fold fusion at the 8 th – 15 th week in the uterus which is influenced by dihydrotestosterone. Hypospadias can cause a disorder of sex development according to the conditions. A case of proximal hypospadias was reported to occur in a 10-year-old twin boy accompanied by undescended testis causing a disorder of sex development. For this case, various examinations were carried out along with evaluations to establish the diagnosis, the cause, the treatment plan, and the necessary evaluation. Keywords : hypospadias, disorder of sex development, undescended testis DOI: 10.7176/JHMN/80-01 Publication date: September 30 th 2020
Highlights
Hypospadias is a congenital defect in which the opening of the urethra is located on the ventral side of the penis proximal to the tip of the glans penis
Some patients with hypospadias have abnormalities such as the abnormal production of testosterone by the testis and adrenal glands, failure to convert testosterone to dihydrotestosterone, androgen receptor disorders, and genetic disorders. 2,8 Environmental exposure factors, both from food, drugs, and chemicals have the role of risk factors for hypospadias. 9–11
Hypospadias in patients with a male phenotype, especially in those suspected of having a disorder of sex development (DSD) accompanied with an undescended testis, a karyotyping test can be performed
Summary
Hypospadias is a congenital defect in which the opening of the urethra is located on the ventral side of the penis proximal to the tip of the glans penis. Sexual differentiation and development of the urethra begins in the uterus at the 8th week and ends at the 15th At this stage, the virilization process occurs, influenced by the testosterone hormone. The testosterone hormone at this age is produced as a result of stimulation by placental hCG.[12] The urethra is formed from urethral fold fusion along the ventral surface from the penis to the corona from the distal part. The patient’s father was the first of five children in his family while the patient’s mother is the fourth of ninth children in her family Both parents of the patient have an identical twin sister (aunt). The patient was subjected to hormonal laboratory examinations in the form of estradiol, LH, FSH, and testosterone continued with a karyotyping test. A karyotyping test of peripheral blood was performed and resulted in 46, XY
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