Complete, mild, or partial androgen insensitivity syndrome (CAIS, MAIS, PAIS)

Androgen insensitivity syndromes mean babies born as genetic males have an androgen receptor problem that means they develop, more or less, into females, including gender identity, body shape, and sexual identity.

Variations in genitalia

Variations in genitalia can be seen on a new baby that don't match either a typical boy or girl, requiring further investigations.

Ureterocele

Ureteroceles are a birth defect affecting the ureters, resulting in problems with urine flow. The connection point of the bladder and lower ureters becomes swollen, and urine flow is blocked, causing the ureters to expand like a water balloon.

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is an adrenal gland disorder where the production of cortisol is affected by an enzyme defect. Androgen precursors accumulate in the blood, with results that range from salt-wasting, high blood pressure, and virilising/feminising.

The Prader Scale of genitalia explained

The Prader Scale shows human genitalia from 0 to 6, from typically female at one end to typically male.

Clitoromegaly

Large clitorises can develop for several reasons, with the most common being an excess of androgens for some reason when a foetus was developing.

Transverse and longitudinal vaginal septum abnormalities

Transverse and longitudinal vaginal septa create a blockage horizontally or vertically in the middle of the vaginal canal.

Vaginal atresia

Vaginal atresia is where the vagina is closed off or doesn't exist, with four common reasons why this might happen. Atresia means narrowing of a body cavity or passage.

Vaginal hypoplasia – the partial vagina

Vaginal hypoplasia is where the vagina doesn't really exist in its full form, or exist at all. The vagina may be narrowed or have not ever developed in the person in the first place.

Anatomical variations and differences in sexual development

Anatomical abnormalities take many shapes and forms, ranging from completely missing vagina, ovaries or uterus, to an extra set of genitals or reproductive organs.

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