Incidence and diagnoses of disorders of sex development in proximal hypospadias
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In brief
In brief
Retrospective study of 165 boys with proximal hypospadias found 8.5% had an underlying disorder of sex development, with partial gonadal dysgenesis being most common. Undescended testes, micropenis, and scrotal anomalies were significantly associated with DSD diagnosis, warranting systematic evaluation in this population.
Written by the GCMD Library team from the article.
Background
Evidence-based guidelines on evaluation of boys with proximal hypospadias for the possibility of a disorder of sex development (DSD) have yet to be developed. We aimed to investigate the incidence and diagnoses of DSD in patients with proximal hypospadias.
Methods
We retrospectively reviewed the records of consecutive boys who underwent proximal hypospadias repairs from 2006 to Sept 2017. Data collected included scrotal anomaly, testes position/palpability, micropenis, DSD investigations, and surgical techniques.
Results
165 patients were eligible for the study. 14 (8.5%) were diagnosed to have DSD. The diagnoses were 46,XX testicular DSD [n = 1], 46,XY DSD [n = 7; partial gonadal dysgenesis (PGD) = 3; 5α-reductase type 2 deficiency = 3; 17α-hydroxylase deficiency = 1], Sex Chromosome DSD [n = 6; 45,X/46,XY PGD = 4; Klinefelter = 2]. 3/7 (43%) patients with PGD had gonadal germ cell neoplasms. Of the DSD patients, 6/14 (43%), 11/14 (79%) and 11/14 (79%) had undescended/impalpable testes, micropenis and penoscrotal transposition/bifid scrotum, respectively, significantly higher prevalence rates than those without DSD diagnosis (p-values