What Are the Genetic Causes of Sex Disorders in Children?

What Are the Genetic Causes of Sex Disorders in Children?

Gender Developmental Disorders

Gender development is a process that begins in the womb and continues until puberty is completed. Disruptions that affect this process appear as gender developmental disorders. Affected individuals have complaints of suspicious sex at birth or delayed puberty in later periods, such as infertility.

Gender development is common during the first 4-6 weeks of pregnancy. After the 6th week, the baby's sex begins to differentiate into male or female, depending on the presence of the male chromosome (Y chromosome). This differentiation and development; It requires the activation and suppression of many factors, especially chromosomes, genes, hormones, in the right place at the right time.

The average frequency of gender development disorder is 1-3%.

Major Symptoms

  • Suspicious sex (failure to clearly distinguish external reproductive organs)
  • Small penis (micropenis)
  • Enlargement of the clitoris (cliteromegaly)
  • Incomplete union of the scrotum (bifid scrotum)
  • inability to menstruate
  • Infertility

Genetic tests that can be done in our center for Gender Developmental Disorder:

  • Chromosome analysis
  • Fluorescent in situ Hybridization (FISH) analysis
  • Chromosomal microarray analysis
  • Gene sequencing: SRY, AR, etc.
  • Exome analysis
  • Optical genome mapping

Important notes

  • One of the most important steps is chromosome analysis.
  • If there is a suspected disease, a test specific to that disease is performed.
  • Diagnosis should be made as soon as possible.
  • In cases with delayed diagnosis, the chance of protecting reproductive health is lower.
  • In some cases, there is a risk of cancer of the internal reproductive organs.
  • As the age of diagnosis progresses, the negative psychological effects on the patient and family also increase.
  • The patient must be evaluated by a Medical Genetic physician and receive genetic counseling.