Gonadal dysgenesis- XX type

Overview

Gonadal dysgenesis, XX type: A rare genetic condition involving non-functional ovaries causing a failure of puberty due to the lack of production of sex hormones by the ovaries.

Symptoms

The list of signs and symptoms mentioned in various sources for Gonadal dysgenesis, XX type includes the 5 symptoms listed below: * Bilateral sensorineural deafness in females * Faculatative deafness in males * Retarded growth in females * Amenorrhea in females * Lack of development of sexual characteristics in females

Causes

1. Conductivehearing loss 1. Externalauditory canal disorders 1. Atresia of external auditory canal 2. Impacted cerumen 3. Otitis externa 4. Exostosis 5. Masses 2. Middle ear disorders 1. Acuteand chronic otitis media 2. Otitis media with effusion 3. Tympanic membrane perforation 4. Hemotympanum 5. Tympanosclerosis 6. Ossicular chain defect, disruption,or fixation 7. Cholesteatoma and other middle earmasses 2. Sensorineural hearing loss 1. Sensorineuralhearing loss without associated abnormalities 2. Sensorineural hearing loss with associatedabnormalities 3. Chromosomal disorders 4. Inner ear malformations 1. Labyrinthineaplasia 2. Common cavity malformation 3. Cochlear malformations 4. Large vestibular aqueduct 5. Prematurity 6. Hypoxic-ischemic encephalopathy 7. Bilirubin encephalopathy (kernicterus) 8. Infection 9. Trauma 10. Drugs 11. Perilymph fistula 12. Neoplasm 13. Ménière disease 14. Unknown 3. Mixed hearing loss

Treatment

The consequences to the girl with XX gonadal dysgenesis: 1. Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. This is often given through the skin now. 2. Her gonads cannot make progesterone, so her menstrual periods will not be predictable until she is given a progestin, still usually as a pill. 3. Her gonads cannot produce eggs so she will not be able to conceive children naturally. A woman with a uterus but no ovaries may be able to become pregnant by implantation of another woman's fertilized egg (embryo transfer).