Disorders of sex development (DSD) are defined as congenital conditions in which there is discrepancy between chromosomal, gonadal and anatomical sex.5 The prevalence of genital anomalies is usually one in 300 births6 but the birth prevalence of true genital ambiguity
may be as low as one in 5000 births.7 In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders and proposed the term 'DSD' instead of terms like 'intersex', 'pseudohermaphroditism (PH)', 'hermaphroditism', 'sex reversal' etc.8 (Table).
These variations may involve genital ambiguity
, aberrations in chromosomal genotype, hormonal issues, or deviations in sexual phenotype.
Review of the literature uniformly shows that CAH is the most common cause of genital ambiguity
among females showing 46,XX karyotype.15-17 Similar results were also observed in the present study revealing 97% of the cases with CAH in 46,XX DSD among over-virilized females.
There is uncertainty with regard to sex of rearing in children born with genital ambiguity
in this disorder.
However, two years later Sax questioned this estimative arguing that the author had included patients without genital ambiguity
, such as those with Turner and Klinefelter syndromes and the nonclassical form of congenital adrenal hyperplasia and suggested that the incidence of DSD with genital ambiguity
would be actually 0.0018% .
Individuals with genetic and congenital DSD present with varying degrees of genital ambiguity
, and they require individualized assessment and care.
The partial or incomplete form of testicular feminization syndrome is associated with wide range of genital abnormalities and typically present at birth with genital ambiguity
. Severe hypospadias associated with micropenis, bifid scrotum and bilateral cryptorchidism are common.
The differential diagnosis for solid testicular mass at this age also includes teratomas, epidermoid cysts, yolk sac tumours (endodermal sinus tumours) and mixed germ cell tumours.[sup.11] Only two cases of bilateral JGCT of the testis have been reported, both in intraabdominal testis.[sup.8,9] In 20% of the reported cases of JGCT of the testis, chromosomal anomalies have been detected, such as structural abnormalities of the Y chromosome and XO/XY mosaicism,[sup.10] and some had genital ambiguity
. The karyotype is only indicated after obtaining the final pathology report because this particular tumour has been reported to be associated with chromosomal anomalies.
Psychologist Suzanne Kessler had decried intersex surgeries in 1990, presenting them as forced surgical enforcement of a two-sex system that could not allow intermediacy.* In a subsequent book, Lessons From the Intersexed (1998), she concluded that the lesson from ending intersex surgery and instead allowing genital ambiguity
to remain unaltered would be the dissolution of gender itself.
Others take a middle ground, saying evaluation must include assessment of the parents' ability to cope with the stress of genital ambiguity
in their child.
So the question becomes how does that affect the child's self representation growing up with genital ambiguity
?" said Dr.
There was no history of similar disorders/ unexplained fetal loss/ genital ambiguity
in the families of either of the non-consanguineously married parents.