Ambiguous Genitalia

Ambitious genitals


  • 1 in 5,000 births.

Ultrasound Diagnosis:

1. Female fetus: Clitoromegaly with normal labia.

2. Male fetus: Micropenis, hypospadias, empty testes, bifid scrotum.

3. Based on the cause, this condition is divided into:

  • Real hermaphrodite: Ovarian and testicular tissue are located within the same gonad. The karyotype is female 46, XX, but a chromatinic material from the Y chromosome.
  • Female pseudohermaphrodite: Women characterized by normal female karyotype and ovarian gonadal tissue. Causes include congenital adrenal hyperplasia (1 in 15,000), ingestion of androgens by the mother, and stimulants in mothers.
  • Male pseudohermaphrodite: Dysfunctional males with normal male karyotype and testicular tissue. Causes include insufficient testosterone production or the presence of an androgen receptor element.

Associated abnormalities:

1. Chromosomal abnormalities, especially trisomy 13, triploidy, and 13q syndrome, are found in a few cases.

2. This condition is often associated with genetic syndromes:

  • Smith-Lemli-Opitz syndrome: Autosomal recessive; abnormal genitals, microcephaly, heart, kidney, intestinal paralysis, syndactyly, and polydactyly.
  • WAGR syndrome: Sporadic; Wilms tumor, aniridia (absence of the iris), genital mutilation, neurodevelopmental delays.

3. Other disabilities, especially facial cracks and heart failure, are more common.


  • Detailed ultrasound examination.
  • Look for maternal symptoms of hyperandrogenism (acne, deep voice, growing hirsutism during pregnancy) and ask about the introduction of androgens during the first trimester and the family history of abnormal genitals.
  • Determine genetic sex by invasive test or cfDNA in maternal blood.
    Families at risk of congenital adrenal hyperplasia: an invasive study of DNA analysis.
  • Suspected cases of Smith-Lemli-Opitz syndrome: amniocentesis and 7-dehydrocholesterol levels; high levels suggest the diagnosis.

Follow up

  • In families with congenital adrenal hyperplasia, giving a pregnant woman dexamethasone from 6 weeks pregnant can reduce the effect of androgens on the vagina and developing brain. If the fetus is male, steroids should be discontinued.
  • Follow-up is performed every 4 weeks to monitor genital growth and development.


  • Regular maternity care but obstetrics should be at a tertiary institution.


  • Treatment of the newborn with abnormal genitals should be done by a multidisciplinary team, including geneticists, pediatric endocrinologists, and pediatric urologists. There is controversy over the distribution of sex and whether they need reconstructive surgery.


  • Congenital adrenal hyperplasia: 25%.
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