46,XX ovotesticular difference of sexual development (DSD)

The 46,XX ovotesticular genetic make-up (karyotype) means a baby is born with both ovarian and testicular tissue. This is known as true hermaphroditism and occurs once in every 20,000 live births.

46,XX ovotesticular people account for less than 10 per cent of all differences in sexual development (DSD).

Let’s talk chromosomes

  • Human body cells typically have 46 chromosomes
  • Pairs of chromosomes are number 1-22 (autosomes)
  • Sex chromosomes are designated X and Y
  • Typically males have one X and one Y
  • Typically females have two Xs
  • In 46,XX (typically female) ovotesticular, the person has some combination of ovary and testicular tissue

Presentation of ovotesticular DSD

Ovotesticular DSD is very rare and involves a combination of the ovaries, testes, or combined ovary and testes (the ovotestes). External genitalia may be typically male or female or vary in appearance. The most common presentation in a 46, XX ovotesticular person is atypical presentations within female internal reproductive organs (uterus, hemi-uterus or rudimentary uterus).

An atypical vagina may be present, and if the uterus exists, it may be underdeveloped. At puberty, breasts, feminisation and menstruation may occur. Infertility is common, particularly among males. Ovulation and/or sperm production are possible. A penis may have atypical appearance, known as chordee and hypospadias, and testes usually remain undescended.

  • Chordee means a downward-curving penis.
  • Hypospadias means the urinary opening is on the underside of the penis.

Understanding the Prader Scale of Genitalia/Quigley scale

The idea of the genitalia scales is more or less like the image below. There is a range of genitalia found in humans, with much debate and controversy over categorisations, and whether, in fact, humans just come in many shapes and sizes, not ‘normal’ and ‘abnormal’.

Quigley scale for androgen insensitivity syndrome

Diagnosis of ovotesticular DSD

Diagnosis of ovotesticular DSD usually occurs before the child reaches five years of age since the genitalia is usually atypical in appearance.

Some children will develop atypical 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
  • The absence of a menstrual period

Causes of ovotesticular DSD

  • In most cases of ovotesticular DSD, the cause is unknown. Most people have the 46,XX chromosomal karyotype, which often results in female sexual development.
  • Ten per cent of people with ovotesticular DSD have testicular tissue due to a translocation of the SRY gene on the Y chromosome to the X (or another) chromosome.
  • Some cases have been reported with genetic variations of other genes (SOX9, RSP01, NR5A1, DMRT1, SRY mutations, MAP3K1)

Treatment and management of ovotesticular DSD

Psychological support is critical for the family because, depending on the extent of the person’s atypicality, treatments are likely going to involve hormone replacements and possibly surgical interventions.

Usually, it is now recommended to wait until a child is old enough to make up their own mind, where possible, about what will occur in their body as it pertains to gender assignment.

References



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Jessica Lloyd - Vulvovaginal Specialist Naturopathic Practitioner, BHSc(N)

Jessica is a degree-qualified naturopath (BHSc) specialising in vulvovaginal health and disease, based in Melbourne, Australia.

Jessica is the owner and lead naturopath of My Vagina, and is a member of the:

  • International Society for the Study of Vulvovaginal Disease (ISSVD)
  • International Society for the Study of Women's Sexual Health (ISSWSH)
  • National Vulvodynia Association (NVA) Australia
  • New Zealand Vulvovaginal Society (ANZVS)
  • Australian Traditional Medicine Society (ATMS)
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