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People with MGD have gonads glands that may not develop fully, and they may not make typical amounts of hormones. Before birth, their bodies may develop typical features of a girl, or a boy, or a mixture of features.

Show How the body develops depends on genetics and hormones.

Mixed Gonadal Dysgenesis

Generally, babies are usually born with a total of 46 chromosomes. Girls usually have two X chromosomes 46,XX.

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Boys usually have one X and one Y chromosome 46,XY. When a baby is in the womb, these chromosome patterns guide how the gonads develop.

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Ovaries make estrogen and some testosterone. Testicles make testosterone. Before birth, testosterone usually makes the body develop as a boy. People whose bodies do not make large amounts of testosterone develop as a girl. Later, hormones make the body change at puberty.

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What Causes Mixed Gonadal Dysgenesis? Show People with MGD have a mixed pattern of chromosomes. Other cells have a 45,X pattern.

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This means some cells have lost one of the sex chromosomes. There may be other combinations of chromosome patterns too.

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Because of this, babies with MGD have gonads that do not develop in the typical way. The gonads are sometimes underdeveloped.

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These gonads may not work or make sex hormones before birth. These gonads may make some hormones.

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Depending on what hormones and how much or little are made, babies with MGD are born with genitals that may have typical features of a girl, or a boy, or a mixture of features. Show Children with MGD can be boys or girls.

The clitoris may be large in some girls.

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The genitals may have features of a boy and a girl. The streak gonad is inside the body.

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Vagina: Some girls may genetic cancer of the womb a small vagina. Some may have a urogenital sinus. This means the vagina and the tube carrying urine join up inside the body instead of having two holes that can be seen from outside the body.

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Womb or uterus: Girls usually have a uterus. Boys usually do not. Puberty: Changes in the body in boys and girls at puberty depend on what hormones are made, and how much or little. If the gonads make testosterone at puberty, there may be growth of the genitals, deep voice and facial hair.

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Show MGD is often diagnosed by a medical exam and testing at birth. During an exam, the doctor may feel an undescended testicle in the groin. Condilomul este necesar genitals may not look typical for a boy or a girl.

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Testing will need to be done for a complete diagnosis. This may show if there is a mixed pattern of chromosomes. Genetic cancer of the womb levels — This is a blood test to check what hormones the gonads are making and how much.

Pelvic ultrasound — This is an imaging test that looks for the gonads and for a uterus.

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Laparoscopy — This is a surgery using a small camera. The surgeon looks for the reproductive parts inside the body. The surgeon may also take small pieces of tissue called a biopsy for testing. Show We care for people with MGD as a team of specialists working together.