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Disorders of sex development

Disorders of sex development (DSD) were previously called intersex, incidence is approximately 1:5000 of live births. DSD encompass inadequate production of sex hormones, inappropriate hormonal functioning and gonad developmental anomalies. There is an increased risk of other associated anomalies and gonadal tumors. The patients may require surgery or hormone replacement therapy.

Apart from clinical examination and imaging (ultrasound of the gonads), the situation should be consulted with geneticist (karyotype investigation, gene mutations) and endocrinologist (hormone levels interpretation, replacement therapy).

Chromosomal aberrations

  • Klinefelter syndrome (47 XXY)
  • Turner syndrome (45 X0)
  • Mixed gonadal dysgenesis (45 X0 / 46 XY)
  • Chimerism (46 XX / 46 XY)

Disorders with normal male karyotype 46 XY

  • testicular dysgenesis
  • disorder of androgen production and functioning
  • isolated hypospadia
  • hypogonadotropic hypogonadism
  • cryptorchism

Disorders with normal female karyotype 46 XX

  • ovarian dysgenesis
  • hyperandrogenism
  • vaginal atresia


① Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017;102(10):968-974. doi:10.1136/archdischild-2016-311270

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