Female sterility diagnosis

diagnosi sterilita
  1. How is female sterility diagnosed?
  2. Which are the most common investigations for female sterility?

How is female sterility diagnosed?

In order to diagnose female sterility it is essential to consider hormonal dosage given that hormonal imbalances are among the most frequent causes of female sterility. Appropriate clinical exams aim to evaluate the ovarian reserve, that is the asset of oocytes, and therefore to assess women fertility. The most common ones are: FSH, LH, estradiol in the first half of the cycle (2nd-3rd day of menstruation); progesterone and prolactin in the second half of the cycle; and finally TSH and Anti-Mullerian hormone (AMH) that determine the stimulation and growth of the follicle during the menstrual cycle.

Which are the most common investigations for female sterility?

Instrumental investigations can also be done to diagnose sterility as these allow to assess the state of health of the female reproductive system, given that anatomical problems may be a cause of sterility. For example, through a transvaginal scan, it is possible to evaluate the ovarian follicle count, the anatomy of the female reproductive system, as well as its possible alterations. Hysteroscopic techniques also allow to obtain a complete vision of the uterus and other areas; it is in fact important to evaluate the state of the mucosa of the Fallopian tubes through hysterosalpingography to recognise potential pathologies that can cause a reduction of fertility.

Last but not least, it is important to promptly identify the presence of vaginal infections or infections to the neck of the uterus through diagnostic exams like vaginal swab or Pap test given that infectious causes are also among the most common causes of female sterility.

Female sterility: genetic causes

cause genetiche sterilità
  1. What is female sterility?
  2. What are the possible genetic causes of female sterility?

What is female sterility?

Sterility is defined as the inability to conceive and can affect both men and women. Primary sterility is when a couple has never been able to conceive while secondary sterility is when a couple has previously been able to do so. In addition, sterility in couples is related to the combined characteristics of a couple. The causes of female sterility are multiple, like genetic, anatomical, hormonal, and infectious.

What are the possible genetic causes of female sterility?

Genetic causes of female sterility are distinguished in genetic (dependant on genes) and chromosomal (dependant on chromosomes). Genetic defects include Kallmann syndrome, which is characterised by the association of two specific clinical manifestations: absent or partial development of genitalia (hypogonadism) associated to sterility, and partial or total loss of the sense of smell.

Chromosomal abnormalities instead cause over 52% of spontaneous abortions and therefore can potentially cause sterility. These abnormalities can be congenital, if present since birth; an example is Turner syndrome, which is caused by a chromosomal abnormality in which one of the X chromosomes is absent or altered, totally or partially. People affected by this syndrome usually have 45 chromosomes instead of 46 and this leads to the absence of the normal ovarian function and therefore to the inability to produce oocytes. Another example of chromosomal abnormality is Morris syndrome (androgen insensitivity syndrome – AIS), which involves a male chromosomal composition associated to a female body and aspect. There can also be damages of the chromosomal structure, known as “Robertsonian translocations”, in which two chromosomes come together, both losing a part. This means that the two chromosomes remain attached to each other and the gametes of these individuals will be carriers of either an additional copy (trisomy) of a certain chromosome or of one copy less (monosomy). Translocations cause an increase in the risk of spontaneous abortion.

  • However, the incidence of these syndromes is quite low:
  • Kallmann syndrome = 1 woman in 50000
  • Turner syndrome = 1 woman in 2000/2500
  • Morris syndrome = 1 woman in 13000

Female sterility: anatomical causes

sterilità utero
  1. What is female sterility?
  2. What are the possible anatomical causes?

What is female sterility?

The World Health Organisation has redefined the concept of sterility defining sterile not only those individuals affected by pathologies that limit fertility but also anyone that has had targeted and unprotected sex for 12 months without procreating. Primary sterility is when a couple has never been able to conceive while secondary sterility is when a couple has previously conceived. Sterility in couples is instead when it is related to the combined characteristics of the couple. The causes of female sterility are multiple, like anatomical, hormonal, genetic and infectious.

What are the possible anatomical causes?

Anatomical causes that can determine female sterility are damages to the Fallopian tubes that can be partial in case of adherences caused by surgery or total if the tubes are completely closed. In both cases, the movement of the egg is impeded, therefore making its fertilization impossible. Alterations to the tubes can also cause extrauterine pregnancies in which the embryo does not develop inside the uterine cavity like in normal situations, leading to an early interruption of pregnancy. Endometriosis can also lead to female sterility; 35% of sterile women are affected by endometriosis because the abnormal presence of endometrium in organs different from the uterus can cause the obstruction of the tubes or the formation of ovarian cysts. Polycystic ovary syndrome, characterised by irregular or absent menstrual cycles, with consequent absence of ovulation, can also lead to sterility problems. Among the other risk factors there are myoma and fibroids that are essentially an excessive and abnormal proliferation of the cells of the uterus that cause vascular modifications that alter uterine contractility negatively, influencing the progression of sperm, the transportation of the oocyte and its implantation. Together with this there is also a rare anatomical condition known as “unicornuate uterus” in which the uterus is smaller than normal, with only one tube and one ovary. This condition causes a lack of development of the foetus therefore increasing the risk of sterility in women.

Vulvodynia: causes and therapies

  1. What is vulvodynia and how is it classified?
  2. What are the possible causes of vulvodynia?
  3. What are the possible therapies for vulvodynia?

What is vulvodynia and how is it classified?

Vulvodynia is a syndrome that affects the vulva and is responsible of three symptoms: stinging, redness, and pain, especially during sexual intercourse. It is classified as “vestibuldynia” if it affects tissues at vestibular level (at the entrance of the vagina), or as “clitorodynia” if the pain is localised on the clitoris.

What are the possible causes of vulvodynia?

Vulvodynia is more frequent in those women that have been affected by several gynaecological disorders like viral, bacterial or fungal vaginitis like candida, cystitis, constipation, vaginal dryness or which have undergone some sort of gynaecological surgery. Other factors that can increase the risk of vulvodynia can be associated to bad eating habits, incorrect intimate hygiene, or clothing, like synthetic clothes that are constrictive and tight in the pelvic area. Diagnosis is based on the persistence of symptoms for at least three months and on the assessment of infections through a gynaecological examination and diagnostic tests like vaginal tampons, urine test and vulvoscopy.

What are the possible therapies for vulvodynia?

Therapies that are recommended for vulvodynia are specific for each patient but they mainly consist in local anaesthetics, oestrogen-rich creams, anti-inflammatory medications and physiotherapy for pelvic floor rehabilitation. Occasionally, surgery known as vestibulectomy can be done. This consists in the removal of the vestibular mucosa and of the associated nerves that lead to hypersensitivity. The area that is removed is then covered with healthy tissue from the vagina. Since women experience pain especially during sexual intercourse, they undergo both psychological and sexual difficulties that may be overcome with a therapist and/or sexologist. In addition, to solve the pain associated to vulvodynia, it is important to abstain from sex until the inflammation is solved and to adopt a correct intimate hygiene and healthy diet to prevent vaginal infection recurrence.

Vulvar biopsy

biopsia vulvare
  1. What is vulvar biopsy?
  2. When and how is vulvar biopsy done?

What is vulvar biopsy?

Vulvar biopsy is a diagnostic test used to exclude or confirm the suspect of several pathologies including vulvar cancer. The test consists in the collection of cells from the vulva’s tissue and in the subsequent histological lab analysis, during which the sample is stained with specific reagents and examined under a microscope.

When and how is vulvar biopsy done?

The incidence of vulvar cancer in women aged 40-50 is doubled due to the increased cases of HPV infection and being this strictly correlated to the development of HPV-dependent vulvar carcinoma. Vulvar cancer diagnosis takes place during a gynaecological examination during which a colposcopy is executed. During colposcopy, a biopsy can also be done. This occurs especially when the Pap test presents abnormal results. The biopsy can be single or multiple depending on how much tissue is collected and it is painless because it is performed under local anaesthesia. If the abnormal area is very large, a punch needle is used as this allows the removal of a small skin cylinder of about 4 mm. The result of the biopsy is negative when the analysed cell sample has no anomalies; it is positive instead when the analysed cells present benign or malignant neoplastic characteristics. During the 48 hours before colposcopy with biopsy it is recommended to abstain from sex and to avoid the use if vaginal washes or ovules. In addition, it is better to avoid colposcopy during menstruation or pregnancy.


  1. What is vulvoscopy?
  2. When can it be done?

What is vulvoscopy?

Vulvoscopy is a diagnostic test that consists in the observation of vulva and perineum (external female genitalia) and aims to:

  • Diagnose and prevent benign or malignant lesions early;
  • Identify the exact location of lesions that must undergo biopsy;
  • Better evaluate inflammatory lesions or bacterial, fungal, protozoal, and viral infections such as HPV warts and ulcers;
  • Better program the suitable therapy.

Vulvoscopy utilizes a source of magnification: the colposcope, a particular type of microscope able of enlarging the tissue image up to 40 times. This tool issues a white beam of light that highlights the damaged areas in the event of dysplasias and tumours. If necessary, it is also possible to perform a biopsy.

When can it be done?

The test is performed during a gynaecological examination; it is painless and non-invasive. It is better to undergo a vulvoscopy with no menstruation or discharge as these could interfere with the visualisation of the examined tissue. It can also be done during pregnancy.

Pathologies of the vulva

  1. What is vulvovaginitis?
  2. What causes vulvovaginitis?
  3. Diagnosis and treatment

What is vulvovaginitis?

An inflammation of the vulva is called vulvitis. The causes of this inflammation can be infections, allergic reactions and lesions because the mucosa and vulvar skin are particularly sensitive to irritations. Symptoms include redness, itching, stinging and pain. Quite often this inflammation is associated to vaginal inflammation and in this case it takes the name of vulvovaginitis. Vulvovaginitis is basically the simultaneous inflammation of the vagina and of the vulva.

What causes vulvovaginitis?

In women of childbearing age and in normal conditions, the vaginal microbial flora is primarily constituted by lactobacilli that protect the vagina keeping pH at normal levels and preventing pathogen growth. Vulvovaginitis is caused by an increase in pH together with an alteration of the microbial flora, conditions that foster the proliferation of pathogen microorganisms. Vulvovaginitis can be caused by Candida albicans infections, bacteria like Gardnerella vaginalis, protozoans like Trichomonas vaginalis and rarely also virus like Herpes simplex; therefore, it can also be the result of infections caused by sexually transmitted diseases. The use of intimate detergents and vaginal washes can also increase the risk of vulvovaginitis as these can cause allergic reactions due to the presence of irritating substances in their ingredients.

Diagnosis and treatment

Vaginal secretions are normally of a white, milky colour with mucus, free from smell and non-irritant. In case of infections like Candida, Trichomonas and herpes virus, the quantity of vaginal secretions increases becoming more abundant, with changes to its aspect and smell. Vulvovaginitis diagnosis takes place with a gynaecological examination during which female genitalia is examined and vaginal smears are taken to assess pH and the possible presence of pathogens. Vulvovaginitis treatment requires the use of antibiotics in case its origin is bacterial while antifungal medicines are recommended in case of fungi.

Physiology of the vulva

fisiologia vulva
  1. What functions does the vulva carry out?
  2. What are the functions of the glands of the vulva?

What functions does the vulva carry out?

The set of external female genitalia known as vulva allows micturition, the outflow of urine, as the presence of the labia minora channels the urine flow from the urethra. Moreover, the vulva provides protection to the uterus through the labia majora and minora and is also important for the cleanliness of the vagina because it helps eliminate vulvovaginal fluids and keep the microbial flora healthy. In addition to its protective functions, the vulva also acts as a sex organ. The structures that compose the vulva like labia majora and minora increase their volume during sexual intercourse to allow an increased blood flow, while the presence of erectile tissue and vestibular glands provides lubrication to the outside of the vulva and to the inside of the vagina. In fact, together with the clitoris, the vulva is the source of female sexual pleasure. Last but not least, the vulva also plays a big role during pregnancy and in particular during delivery as it allows the passage of the foetus.

What are the functions of the glands of the vulva?

The main function of Bartholin’s glands is to secrete a fluid that contributes to vaginal lubrication. Bartholin’s glands modify their structure with age: they are quite small in young women and they reach their maximum volume in adult, sexually active women. These glands later go through a progressive involution, leading to small dimensions after menopause.

Skene glands, also known as paraurethral glands, are instead ramified tubular glands that secrete a light and viscous liquid that acts as a lubricant when in the vaginal vestibule.

Diagnostics: Colposcopy and hysteroscopy

  1. What is colposcopy?
  2. How is colposcopy done?
  3. What is hysteroscopy?

What is colposcopy?

Colposcopy is a method used to examine possible anomalies of the neck of the uterus and is primarily executed to prevent and diagnose cervical cancer early. It is also useful to investigate pelvic pain or abnormal vaginal bleeding (for example after sexual intercourse). In addition, it is useful to execute a colposcopy in case of abnormal Pap test, of the suspect of infection from sexually transmitted diseases, or after the identification of lesions, polyps or irregularities of the cervix or of the vagina.

How is colposcopy done?

During colposcopy, the vagina is dilated through the use of a special device called speculum. The gynaecologist uses an optical tool called colposcope that is not inserted into the vagina, which allows to examine the uterine cervix at extremely high magnification (from 6 to 40 times). The doctor can apply reactive liquids (acetic acid 5% or iodate solutions) to visualise the presence of abnormal cells. During the examination it is possible to collect sample tissue where the abnormal cells are in order to execute a biopsy or to remove abnormal cells directly through electroescission. It is a risk-free exam and is not painful but if reactive liquids are used or if a biopsy is executed, slight discomfort or stinging is possible. Colposcopy cannot be executed during the menstrual period or in case of a strong vulvo-vaginal inflammation; it is also appropriate to abstain from sex and from using creams, ovules or washes in the hours before the examination.

What is hysteroscopy?

Hysteroscopy consists in the visualisation of the uterine cavity thanks to the use of an optical tool, the hysteroscope, connected to a camera and inserted through the cervical canal. In this way it is possible to identify pathologies such as fibroids, uterine polyps and uterine neoplasms. Hysteroscopy is also useful in case of abnormal uterine bleeding to assess its causes.

During the examination, biopsy is possible and is executed by collecting cells from the uterine cervix for further analysis.

Pap Test: traditional cytology

pap test
  1. What is Pap Test?
  2. How is it done?
  3. When can it be done?

What is Pap Test?

Pap Test, also known as Pap smear, is a diagnostic exam that takes its name from Dr Georgios Papanicolaou. The purpose of the test is to detect cervical cancer or possible alterations to the cells of the uterine cervix early (identification of precancerous cells on the cervix). It therefore allows to reduce the risk of cervical cancer diagnosis. This prevention test is indicated for women and young women as they are likely exposed to several risk factors for the development of cervical cancer due to their sexual activity, the most important of which is HPV (Human Papilloma Virus) infection. For this reason, recent studies have shown that viral DNA research test should be associated to Pap Test. For women aged 25-35 years, the test is recommended every 3 years.

How is it done?

It is a very simple test that consists in collecting a sample of cells from the neck of the uterus during a gynaecological examination. The test is done with a swab that allows to collect small quantities of mucus from the neck of the uterus and from the cervical canal. The material obtained will be placed on a slide with a liquid before being evaluated by a cytologist. The test is not painful or dangerous.

When can it be done?

The presence of menstruation is the only contraindication, because the menstrual flow does not allow the correct vision of the cervical cells. Gynaecologists recommend taking the test between the tenth and the twentieth day of the menstrual cycle. The use of oral and/or local (IUD) contraceptives is irrelevant for the test. In addition, pregnant women can also take the test with no danger for the foetus. Women that have been vaccinated against HPV should also take Pap tests regularly because even though the risk of contagion is lower, it is never completely absent.