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Disorders of Sexual Development

Disorders of sexual development (DSD) are a group of conditions characterized by abnormally formed reproductive organs and genitals. A child with DSD is said to have both male and female sexual characteristics, organs and genitals of the opposite gender or incomplete sexual development. The cause for DSD is not very clear, but is most often associated with genetic mutations, chromosomal abnormalities, a lack or deficiency of sex hormones, or non-response of genital tissues to the production of sex hormones.

The different types of disorders involving sex development include:

  • Ambiguous genitalia is a condition in which a child’s external genitals are not well-formed and not clearly male or female. The child may have normal ovaries and a womb, with external genitals resembling those of a male, or poorly developed penis, urethra or testicles.
  • A female child may have normal external genitals, with the absence of womb and presence of testes.
  • A child may have the presence of both male and female characteristics, such as one ovary and one testis, and external genitals that are either female, male or both.
  • Normal external genitals may be present with abnormal sexual development. The physical appearance of the child is normal with the presence of testes and a penis in males, and ovaries, womb and a vagina in females, but the child may not have normal sexual development at puberty. E.g. A female child may have small breasts and does not start her menstrual cycle.
  • Underdeveloped or absence of womb may be seen in a female child.

Some of these conditions are detected soon after birth or usually by the time of puberty. The cause of deformity is confirmed by performing certain diagnostic investigations including a thorough physical examination, various blood tests and ultrasound scans. Based on these results, your child’s doctor may suggest hormone therapy, counseling or surgery to treat the specific condition.

NMC UroCare provides specialized and experienced pediatric urologists and the best quality treatments. For further information regarding Disorders of Sexual Development, please contact NMC UroCare.