Overview
Ambiguous genitalia refers to a condition in which an infant’s genitals do not have the typical appearance of either a boy or a girl. Ambiguous genitalia isn’t classified as a disease but it is known to be a disorder of sex development. An infant with ambiguous genitalia has external sex organs not matching with the internal sex organs or genetic sex.
Symptoms
Ambiguous genitalia can be identified before birth. Genetically female babies may have the following sign and symptoms:
Clitoris Resembling Penis
Closed Labia
Abnormally Small Penis
Absence of Testicles (One or Both)
Causes
Ambiguous genitalia can occur during pregnancy and interrupt the fetus’s developing sex organs. It is usually caused by:
- Hormonal Medications
- Maternal hormonal imbalance
Diagnosis
Mostly children with ambiguous genitalia are diagnosed at birth through a physical examination of outer sex organs. However, a physician may advise to get the following tests done:
Ultrasound
MRI
Blood Tests
Biopsy
When to See a Doctor
Make an appointment right away if any worrisome symptoms appear.
Treatment
It is important to first identify the child’s gender before beginning the treatment. Ambiguous genitalia is usually treated by performing reconstructive surgery. This involves removing or creating appropriate sex organs. In most cases, hormone replacement therapy (HRT) is also a significant part of the treatment plan.
Surgeons at Curadors have successfully performed several such procedures over a period of 15 years. Our partnered facility, Maroof International Hospital has state-of-the-art operation theaters equipped with the world’s most advanced equipment to provide the best quality treatment to our patients.
Risks, Complications & Preventions
Children born with ambiguous genitalia may experience reduced or absent fertility. They will require ongoing medical monitoring as they are also more susceptible to certain types of cancer. Hormone medications may help in correcting the hormonal imbalance which may be administered at the time of puberty.
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Dr. Faisal Murad
Chief of Surgery & Laparoscopic Surgery
M.B.B.S., MCPS, FCPS (Surgery), Fellowship Telemedicine
Dr. Mustafa Javed
Orthopedic Surgery
BSc, MBBS, MRCS (Edinburgh, UK), FRCS, Trauma & Orthopedics (Edinburgh, UK), CCT (Yorkshire, UK)