46,XX ovotesticular disorder (or difference) of sexual development (DSD)

The 46,XX ovotesticular genetic make-up is the presence of both ovarian and testicular tissue. It is known as true hermaphroditism, and occurs in between one out of every 20,000 live births, accounting for less than 10 per cent of all disorders/differences in sexual development (DSD). The most common presentation is abnormalities within female internal reproductive organs (uterus, hemi-uterus or rudimentary uterus), but external genitalia differences ranges from apparent female to apparent male, with chordee and hypospadias. Sometimes a normal penis and testes descend that contain parts of ovaries too. Men are usually infertile, whereas women may be fertile.

Check out the Prader Scale of Genitalia. 

It isn’t clear exactly what is going on in ovotesticular DSD, but most cases (65 per cent) are SRY-negative – this is the area that determines sex. Rarely a person may have a copy of the SRY gene, have SOX9 gene duplication, or have a mutation in the RSP01 or WNT4 genes in an XX sex reversal predisposition to squamous cell carcinoma and Serkal syndrome respectively.

     Diagnosis of ovotesticular DSD

Diagnosis of ovotesticular DSD is usually before the child reaches five years of age, since the genitalia is usually atypical. Some children will develop abnormal signs at puberty. Diagnosis is complex and uses several different methods to determine the extent of the changes.

     Signs and symptoms of ovotesticular DSD

  • Lower abdominal pain
  • Breast development in boys
  • Inguinal hernia
  • Inguino Scrotal mass
  • Cryptorchidism
  • No period

     Treatment and management of ovotesticular DSD

Psychological support is a must for the family, because depending on the extent of the person’s atypicalities, treatments are likely going to involve hormone replacements and possibly surgical interventions. Usually it is now recommended to wait until a child can make up their own mind, where possible, about what will occur in their body as it pertains to gender assignment.