Female Genital Abnormalities

oPatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.

Female genital abnormalities are uncommon and often do not present until, or well after, puberty. Although genital abnormalities may be isolated, careful assessment for possible underlying disorders, particularly chromosomal or metabolic, is essential.

The most common types of uterine abnormalities are caused by incomplete fusion of the Müllerian or paramesonephric ducts:[1]

  • Complete failure is rare and results in double vagina, double cervix and double uterus. Variants may occur depending on the degree of fusion of the Müllerian ducts.
  • More extensive fusion of the Müllerian ducts results in a single vagina, single cervix and double single-horned uteruses which are partially fused.
  • Other abnormalities include septate uterus (uterus with midline septum), arcuate uterus (uterus slightly indented in the middle) and unicornuate uterus (second blind-ending rudimentary horn).
  • Investigations:
    • Ultrasound.
    • Hysterosalpingography, which allows evaluation of the uterine cavity and tubal patency.
    • MRI scan, which is considered the best imaging technique for uterine abnormalities.
  • Complications:
  • Management:
    • Decision for surgical intervention will depend on the affect of the abnormality on enabling a viable pregnancy.
    • A septate vagina and the rudimentary horn of a bicornuate uterus are usually removed.
    • Uterine reconstruction is recommended for a bicornuate or septate uterus which is considered to be the cause of recurrent miscarriages.

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  • Vaginal agenesis:
    • Usually occurs with absent uterus but ovaries present.
  • Vaginal atresia:
    • The lower portion of the vagina consists of fibrous tissue with a well-differentiated uterus.
  • Müllerian aplasia:
    • Nearly all of the vagina and most of the uterus are absent.[2]
    • Accounts for most cases of absence of vagina with normal external genitalia.
    • Can be associated with other anomalies including fused cervical vertebrae and middle-ear defects.
  • Transverse vaginal septa:
    • Can be present as single or multiple in the upper or lower segments and may be patent or perforated, and can be the cause of haematometra or other fluid collections.
    • Longitudinal vaginal septa have also been reported.[3]
  • Associated anomalies:
    • The urethra can open into the vaginal wall or the vagina can open into a persistent urogenital sinus. Associated rectal abnormalities include vaginorectal fistula, vulvovaginal anus, rectosigmoidal fistula.
  • Imperforate hymen is not uncommon and is either congenital or acquired from inflammatory occlusion after perforation.
  • This may first present with obstruction of menstrual flow after puberty.
  • Rectocloacal fistula with persistent cloaca is a common outlet for the urinary, genital and intestinal tracts.
  • With a rectovaginal fistula, the vestibule can appear normal but the anus is found in the perineum.
  • Can also be persistent urogenital sinus with a single external orifice without an anorectal defect.
  • Labia minora abnormalities: can have labial fusion or hypertrophy in otherwise normal females. Hypertrophy can be unilateral or bilateral and may occasionally require surgical correction.
  • Abnormalities of labia majora: can be hypoplastic or hypertrophic. Abnormal fusion is usually associated with ambiguous genitalia of female pseudohermaphroditism due to congenital adrenal hyperplasia.
  • Clitoral abnormalities: these are generally rare, agenesis is extremely rare and is double clitoris or bifid clitoris. Hypertrophy can be associated with a number of intersex disorders.
  • This includes Turner's syndrome and wide range of chromosomal anomalies characterised by the absence of two X chromosomes with the required critical zones.
  • This results in the production of streak ovaries, and is associated with a number of other somatic abnormalities.
  • Neonates with streak ovaries often have oedema of the hands and feet as a first presenting sign. However, many present in adolescence with short stature (<1.5 m).
  • Classically, Turner's syndrome was genital infantilism, webbing of the neck, cubitus valgus and retarded growth.
  • Turner's syndrome is now used to describe girls with sexual infantilism with ovarian streaks, short stature and two or more of the following: shield chest, obesity, high palate, micrognathia, epicanthal folds, low-set ears, hypoplasia of the nails, osteoporosis, pigmented moles, hypertension, lymphoedema, cutis laxa, keloids, coarctation of the aorta, mental retardation, intestinal telangiectasia and deafness.
  • Most cases of Turner's syndrome have only one normal X chromosome and two thirds of cases have no other sex chromosome.
  • There are also patients of normal height without these abnormalities but with gonadal streaks in which there are two cell lines - one with two normal sex chromosomes and another with only a single X chromosome.
  • Follicle-stimulating hormone (FSH) and luteinising hormone (LH) are raised, oestrogens are low and non-gonadal endocrine functions are normal. Treatment is with oestrogen for development of secondary characteristics, growth hormone to increase height and surgical removal of gonadal streaks to prevent malignant degeneration.
  • This is characterised by the presence of both ovarian and testicular tissue in a single patient. The testes will develop in the presence of a single Y chromosome even with more than a single X chromosome.
  • No single clinical feature can distinguish true hermaphroditism from other forms of intersexuality with firm diagnosis possible after ultrasound and hormone assay.
  • Often patients have been reared as males because of appearance of external genitalia but, with early diagnosis, most should be reared as females, with many developing female-type breasts. This distinguishes them from male hermaphrodites.
  • Many menstruate and some who have had testicular tissue removed have become pregnant.
  • Many cases have an apparently normal pair of X chromosomes, many of which have Y-specific sequences.
  • Treatment is to remove contradictory organs, and reconstruct external genitalia corresponding to sex of rearing.
  • Usually this is due to a genetic defect in the synthesis of the enzyme required for 21 hydroxylation in the synthesis of cortisol. Adrenal glands secrete abnormally large amounts of virilising steroids, even in the fetus.
  • The child is born with scrotolabial folds fused and a greatly enlarged clitoris that can easily be mistaken for a penis. No testes are palpable, and may be mistaken for male cryptorchidism.
  • Normally, a single urinary meatus at the base of the phallus is seen with the vagina entering a persistent urogenital sinus.
  • Patients exhibit rapid growth in infancy but this stops early, creating short stature.
  • Pubic hair can appear as early as two years but normally later than this, followed by the appearance of body and facial hair, and acne.
  • Puberty does not occur and there is no breast development.
  • Diagnosis is by pelvic ultrasound in the newborn and presence of ambiguous external genitalia, assay of urinary 17-ketosteroid and serum 17-hydroxprogesterone.
  • Treatment is with hydrocortisone and surgical correction of external genitalia.
  • Fetal masculinisation of external genitalia can occur in females with no adrenal dysfunction.
  • They do not show precocious sexual development and there is normal puberty, etc.
  • With complete fusion of the scrotolabial folds, there is a need to examine the relationship of the urogenital sinus to the urethra and vagina and show the presence of a uterus.
  • It can be difficult to differentiate this from true hermaphroditism when there is a high degree of masculinisation.
  • It can be caused by exogenous androgen or there may be no identifiable cause but it is associated with other somatic anomalies and mental retardation.
  • Causes include:
    • Abnormal or absent gonadotropin secretion.
    • Defect in biosynthesis of testosterone.
    • Defect in duct regression, familial gonadal destruction, Leydig's cell agenesis, bilateral testicular dysgenesis.
    • Androgen insensitivity syndrome or 5 alpha-reductase deficiency.
    • Y chromosome mosaicism, structurally abnormal Y chromosome or not identifiable.
  • Genetically male infants with abnormal or ectopic testes may have external genitalia so ambiguous that true sex cannot be identified.
  • May also be indistinguishable from a normal female or, in others, may appear as hypospadiac male.
  • Can also have a vagina, cervix, uterus and uterine tubes; ovaries are usually absent.
  • At puberty, body hair can appear either typically female or male. Amenorrhoea is the rule.
  • If reared as females, they may marry and accept their sex role. Others may be less attractive due to poor treatment.
  • The best results appear to be achieved by directing hormonal and surgical treatment towards improving the patient's characteristics as a female.

Further reading & references

  1. Avolio L; Genital Anomalies, Medscape, May 2013
  2. No authors listed; ACOG Committee Opinion. Number 274, July 2002. Nonsurgical diagnosis and management of vaginal agenesis.; Obstet Gynecol. 2002 Jul;100(1):213-6.
  3. Levy G, Warren M, Maidman J; Transverse vaginal septum: case report and review of the literature.; Int Urogynecol J Pelvic Floor Dysfunct. 1997;8(3):173-6.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Colin Tidy
Current Version:
Last Checked:
18/02/2011
Document ID:
868 (v22)
© EMIS