Etiology and clinical profile of children and adolescents with disorders of sex development (DSD) presenting with ambiguous external genitalia

Abstract

Results 42 patients (age-neonate to 18 years, 14 (46 XX DSD), 26(46XY DSD) and 2(sex chromosome DSD) were evaluated.46 XX DSD was due to Congenital Adrenal Hyperplasia (CAH) (12/14) and SyndromicDSD(2/14). All presented with clitoromegaly and labioscrotal fusion. 5/12presented in infancy, with Adrenal crisis and severe (prader stage ≥3) virilization(Salt Wasting CAH), 7 had Simple VirilizingCAH. Hypospadias was the most common presentation in 46XY DSD. Partial Androgen Insensitivity syndrome (PAIS) (8/26, 30%) was the most common etiology.4 had 5 alpha reductase deficiency, (1 had isolated micropenis and1 cryptorchidism with PraderWilli Syndrome while other 2 had hypospadias). 4 patients had Complete Androgen insensitivity Syndrome, 2(Pure Gonadal dysgenesis), 1 (SyndromicDSD),1 (CAH, 21 hydroxylase deficiency with peripheral precocious puberty), 1 (Vanishing testis syndrome). 5 patients had inconclusive biochemical profile. 6 patients presented with virilization at puberty. Though gender identity prior to puberty was female, history suggestive of conflict regarding the gender role was present. 4/6 were reassigned a male gender, while 2 continued as females. 1 patient of Sex Chromosome DSD, had Ovotesticular DSD with rare mosaic karyotype of 46XX(p-)(P21-23)/45X 80%/20%, while other had 46XY/46XX 58%/42%chimerism.