Anatomical abnormalities

Vaginal adenosis

Vaginal adenosis is where cervical and endometrial cells are found in the vaginal walls, and is most related to women exposed to DES in the womb.

In utero exposure to DES

DES is a synthetic oestrogen given to millions of women during the 50s and 60s, before it was found to possibly cause vaginal cancers in female offspring.

46,XX testicular difference of sexual development (DSD)

Folks with the 46,XX testicular difference of sexual development (DSD) are genetically female, but look (and feel) like males in every other way.

46,XX ovotesticular difference of sexual development (DSD)

The 46,XX ovotesticular genetic make-up means both ovarian and testicular tissue is present.

Turner syndrome is what life looks like with a missing X chromosome, in women. Turner syndrome is only found in females, with just one copy of the X chromosome present. Diagnosis might be made late, at puberty, when events don't pan out like they were expected to.

Obstructed uterine horn

An obstructed uterine horn is an anatomical abnormality whereby the uterus is not connected properly with the fallopian tubes.

Kallmann syndrome

Kallmann syndrome is a genetic disorder characterised by lessened or no sense of smell and late/no puberty. Girls with Kallmann syndrome may fail to get their period and have very small breasts, with both boys and girls with this condition likely to have other abnormalities present.

Understanding adrenal PCOS

Sometime the excess androgens involved in PCOS are produced by the adrenal glands, not the ovaries, which makes PCOS caused by the adrenals a bit different to regular PCOS. Find out how to deal with adrenal-androgen excess.

Cervical hypoplasia

Cervical hypoplasia is an anatomical abnormality that results in a malformed cervix, which can prevent a period from arriving or cause pain. The shape and size of the cervix can determine whether assistance will be required for pregnancies.

Uterine hypoplasia

Uterine hypoplasia is the undeformed or absent uterus, an anatomical abnormality often found in conjunction with MRKH syndrome.

Cockscomb cervix anatomical abnormality

A cockscomb cervix is an anatomical abnormality whereby the cervix appears with large ridges or folds of fibrous tissue that resembles a rooster's comb.

Uterus didelphys

A double uterus usually also means a double cervix and a double vagina - but not always.

Unicornuate uterus (hemi uterus) – müllerian duct anomalies

A unicornuate uterus is an anatomical abnormality that occurs when the two sides of the body are fusing together in the womb, and the mullerian ducts fuse abnormally. This is known as a mullerian duct abnormality, and can affect the size and shape of the uterus.

Vaginal agenesis – absent vagina

Vaginal agenesis is the complete absence of a vaginal canal, caused by an interruption to normal development as a foetus. Reconstruction is a viable option in most cases.

Cervical agenesis

Cervical agenesis means the cervix - connecting the uterus and vagina - is absent, usually due to either surgical removal or an anatomical abnormality that occurred during development in the womb.

Cervical stenosis

Cervical stenosis is the narrowing - for whatever reason - of the cervix, the neck of tissue that joins the vagina and uterus. A narrow cervix can create a few issues with in-and-out flow between the uterus and the vagina, including sperm, periods and babies.

Swyer syndrome (XY gonadal dysgenesis, XY female)

Swyer syndrome means you are a chromosomal male (46, XY), but - aside from ovaries - the rest of you is 100% woman. This means you look and feel just like a woman, but your chromosomes say you are a man.

MRKH syndrome

MRKH syndrome is a congenital abnormality, whereby the uterus, top part of the vagina, and cervix do not exist or are very small. Ovaries are usually normal, since the ovaries run off a different system.

Differences of Sexual Development (DSD)

DSD is the multitude of in-between typical male and female presentation we see in human bodies. The variations range from typically female with every physiological twist and turn to typically male.

5-alpha-reductase deficiency (5 ARD)

5 ARD is a genetic blip that blocks the conversion of testosterone to dihydrotestosterone (DHT) in a growing foetus. DHT is required for the penis and testicles to develop in a male foetus, resulting in ambiguous genitalia. People with 5 ARD may be brought up as girls or boys.