1. Case Report of an Adult Patient with Hypospadias, 46,XX Maleness and 21-Hydroxylase Deficiency - Coincidence or Association?
- Author
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Predoiu, G., Savu, A. D., Constantin, T. V., Medar, C., Budau, M., Podarita-Petcusin, A., and Jinga, V.
- Subjects
SEX differentiation disorders ,ADRENOGENITAL syndrome ,URETHRA stricture ,URINARY tract infections ,ORAL mucosa ,HYPOSPADIAS - Abstract
Introduction and Objectives. The most common cause for Congenital adrenal hyperplasia (CAH) is due to 21- hydroxylase deficiency which can produce disorders of sex development. 46,XX maleness is a rare syndrome with an incidence of 1 in 20000-25000 males, and they are defined by ambiguous genitalia or partially to fully mature male genitalia. Materials and Methods. We present the case of a 49-year-old patient (46,XX) with CAH resulting from 21-hydroxylase deficiency, diagnosed with penoscrotal hypospadias at the age of 3 and a half years for whom multiple corrective surgeries were performed and was referred to our hospital for evaluation of urethrocutaneous fistulas. Results. In 2021, the patient was diagnosed by the endocrinology department with 46,XX Karyotype, male phenotype and congenital adrenal hyperplasia due to 21 hydroxylase deficiency. The urological diagnosis established at "Prof. Dr. Theodor Burghele" Clinical Hospital was of multiple urethrocutaneous fistulas that occurred after penoscrotal hypospadias repair in childhood. The surgical indication consisted of urethroplasty with oral mucosa graft in two steps, the time between interventions being about four months. The surgical evolution was good, without complications. Complications after multiple times operated hypospadias are redoubtable, including strictures of the anterior urethra, urethral fistulas, urethritis, and recurrent urinary tract infections. The treatment of such cases is particularly difficult. Conclusions. The use of extragenital tissues for urethral reconstruction (oral mucosa graft) provides superior functional and aesthetic results compared to the techniques using skin flaps. [ABSTRACT FROM AUTHOR]
- Published
- 2023