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’.
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
- Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation.Nat Rev Endocrinol. 2014;Oct;10(10):603-15. doi: 10.1038/nrendo.2014.130. Epub 2014 Aug 5.
- Vilain E. The genetics of ovotesticular disorders of sex development. Adv Exp Med Biol. 2011;707:105-6. doi: 10.1007/978-1-4419-8002-1_22.Wiersma R. The clinical spectrum and treatment of ovotesticular disorder of sexual development. Adv Exp Med Biol. 2011;707:101-3.
- Hughes IA, Houk C, Ahmed SF, Lee PA; Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(3):148-62.
- Kim KR, Kwon Y, Joung JY, Kim KS, Ayla AG and Ro JY. True hermaphroditism and mixed gonadal dysgenesis in young children: A clinicopathologic study of 10 cases. Modern Pathology. 2002;15(10):1013-1.
- Hutcheson J, Snyder III HM. Ambiguous Genitalia and Intersexuality. Medscape.
- Medline Plus: A Service of the U.S. National Library of Medicine and the National Institutes of Health. Medical encyclopedia: Intersex.
- Ahmed F, Lucas-Herald A, McGowan R, Tobias E. Orphanet.
- NORD Rare Diseases, Eric Vilain, MD, PhD, Professor of Human Genetics, Pediatrics and Urology; Director, Center for Gender-Based Biology; Chief, Medical Genetics, Department of Pediatrics; David Geffen School of Medicine at UCLA
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