Ovotesticular Disorder of Sexual Development Clinical Presentation

Updated: Aug 26, 2022
  • Author: Molina B Dayal, MD, MPH; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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The presence of both testicular and ovarian tissue within one individual gives rise to varying degrees of ambisexual development. The first contact with a patient with ovotesticular disorder of sexual development is in the newborn period. A newborn usually presents with ambiguous genitalia and discussions must be had with the parents to rule out immediately life-threatening diseases. Although some cases of OT-DSD are diagnosed in the newborn period, only 20% are diagnosed prior to age 5 years. Most cases of OT-DSD are diagnosed in the pubertal period when the young male begins to experience feminization. By puberty, most of the life-threatening conditions associated with genital ambiguity have been ruled out.


Physical Examination

A thorough physical examination is mandatory.

Newborn period: When faced with the delivery of an infant with genital ambiguity, the physician must determine if the newborn is a virilized female, an undermasculinized male, or a rare person with ovotesticular disorder of sexual development. Physical examination should focus on the following considerations:

  • Genetic stigmata: A general assessment of the infant's body habitus should be made, giving special attention to the presence of any genetic stigmata.

  • Skin pigmentation: Skin pigmentation pattern should be noted as areolar and scrotal hyperpigmentation may be a manifestation of high serum adrenocorticotropic hormone (ACTH) levels associated with congenital adrenal hyperplasia (CAH). Skin mottling and heterochromia of the iris may be present in the rare person with chimeric hermaphroditism.

  • Genital examination: Determine the penile length and the location of the urethral opening, inspect the frenulum, determine the labioscrotal condition, document the number and location of perineal orifices, and identify the position of the gonads. One important clinical finding that may be present is a palpable gonad in one of the labioscrotal folds. If the newborn has OT-DSD, the palpated gonad is most likely an ovotestis or testis and usually is located on the right side. Discerning a difference between the ovarian (firmer) and testicular (softer) components of an ovotestis by palpation may be possible.

Pubertal period: Most cases of OT-DSD are diagnosed in the pubertal period when the young male begins to experience feminization. By puberty, most of the life-threatening conditions associated with genital ambiguity have been ruled out. Aside from the physical examination findings discussed in the newborn section, pay special attention to the following:

  • Sexual hair distribution: Adrenarche is a normal part of both male and female puberty. The absence of pubic and axillary hair suggests androgen insensitivity. Alternatively, a feminine sexual hair pattern in a pubescent male should trigger further investigation.

    • A case study of a 14-year-old female patient indicates that patients with 46 XX OT-DSD may present with virilization at puberty along with dysmorphic features. [14]

  • Uterus: In ovotesticular disorder of sexual development, the presence or absence of a uterus is variable. Anomalies are common when the uterus is present. A hemiuterus, uterine hypoplasia, and cervical atresia are the most frequent uterine anomalies noted. Approximately 60% of those individuals with a 46,XX peripheral karyotype menstruate or present with signs of obstructed genital outflow tract at puberty.

  • Vagina: The vagina, when present, is normal in only 9% of cases of ovotesticular disorder of sexual development. The vagina generally shares the urogenital sinus with the urethra as the common external orifice.

  • Phallus: The phallus, if present, is almost always in chordee. Phallic length varies greatly. The urethra most commonly opens as a urogenital sinus. Hypospadias, often associated with bifid scrotal folds, is the most common anomaly of the external genitalia encountered.

  • Labia/scrotum: The presence or absence of labioscrotal fusion is variable. In one review, 7% of people with true hermaphroditism had normal labia majora, 13% had hemiscrotum, 17% had a normal scrotum, and 63% had labioscrotal folds. Gonads were found frequently on the right side of the labioscrotal folds.

  • Breast development [15] : Most people with OT-DSD are given a male sex assignment at birth but develop breasts at puberty or later. Thelarche occurs in more than 90% of people with ovotesticular disorder of sexual development.