Disorders of Sexual Development in Proximal Hypospadias in Children

  • Abokifa A
  • El Badawy R
  • Anwar H
  • et al.
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Abstract

Background: Hypospadias is seen in around one in 300 live births, making it the most prevalent congenital penile abnormality. Objective: to evaluate of the incidence and diagnosis of disorders of sexual development in proximal hypospadias. Patients and Methods: This prospective study was conducted on 44 children attending the Pediatric Surgery Department, Al-Azhar University Hospitals during the period from Dec 2018 to Nov 2019. Detailed history taking; including complete physical examination, examination with special focus on external genitalia and gonads; routine and specific laboratory investigation as genetic karyotyping, serum testosterone (T), dihydrotestosterone, dehydroandrostenedione,17 OH progesterone, HCG stimulation test, serum levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), Adrenal hormones "serum cortisol & plasma adrenocorticotropic hormone (ACTH) "to exclude congenital adrenal hyperplasia. Ultrasound abdomen and pelvis was routinely done to assess the internal genital organs " uterus, fallopian tubes " and gonads " testis, ovaries ". Results: there are (5) patients diagnosed as DSD: Three cases (6.8 %) have Karyotyping (46, XX), diagnosed as CAH. One case (2.2%) has Karyotyping (46XY (70%)/45X (30) sex chromosome DSD (45, X/46, XY PGD) or "mixed gonadal dysgenesis". One case (2.2%) has Karyotyping (46, xy), diagnosed as complete Androgen insensitivity syndrome. Conclusion: Patients presenting with proximal hypospadias and one or more of the co-existing anomalies of micro penis, undescended/impalpable testes, and penoscrotal transposition/bifid scrotum should warrant DSD evaluation. Presence of bilaterally descended testes in scrotum does not preclude the possibility of DSD.

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APA

Abokifa, A. M., El Badawy, R. I., Anwar, H. W., & El Sagheer, Y. E. (2019). Disorders of Sexual Development in Proximal Hypospadias in Children. The Egyptian Journal of Hospital Medicine, 77(6), 5771–5775. https://doi.org/10.21608/ejhm.2019.63574

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