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Ambiguous Genitalia by Marianne Bird

Page history last edited by Marianne Bird 3 years, 11 months ago

Ambiguous Genitalia

 

By Marianne Bird

 

Ambiguous genitalia is a rare disorder of sex genes, where an infants external genitalia is not clearly male or female. The genitalia can be underdeveloped, have characteristics of both male and female, or can be a mismatching of either the internal and external sex organs, or with the genetic sex.

 

The genetic sex of an infant is determined at conception, both male and female evolve along the urogenital ridge line, see diagram below. After the genetic sex chromosomes determines the sex of the child, ambiguous genitalia is caused by disruption of the hormones needed to grow the corresponding sex organs. Mutation of the gene, missing or additional chromosomes or lack of sufficient hormone are some causes. Specific to male abnormalities are androgen sensitivity, impaired testicular development, or 5a-Reductase deficiency. Causes for female abnormality are congenital adrenal hyperplasia, prenatal exposure to testosterone or in rare cases tumors that release testosterone.

 

Treatment for this starts with careful consideration and counsel. It can be very distressing for the parents to have to choose what is the correct thing to do. Left untreated can result in early death, sterilization or infertility, adrenal gland disorder, abnormal genitalia, complications through puberty and abnormal growth, as well as increased risk of certain cancers. Treatment starts with blood tests to check for hormone levels and chromosomes to determine the genetic sex, as well as ultra sounds and x-rays to help better determine the anatomy. Once the sex is determined as best as possible, hormone therapy starts and eventual surgery can be required. Treatment is long term, and should include psychological as well as physical well being of the child; and parents should be prepared that the child may make a different decision about their gender later on in life.

 

 

 

 

Works sited:

https://www.mayoclinic.org/diseases-conditions/ambiguous-genitalia/symptoms-causes/syc-20369273

https://adc.bmj.com/content/89/5/401

https://www.mayoclinic.org/diseases-conditions/ambiguous-genitalia/diagnosis-treatment/drc-20369278

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