Cervical agenesis is a

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...

of the

female genital system The female reproductive system is made up of the internal and external sex organs that function in the reproduction of new offspring. In humans, the female reproductive system is immature at birth and develops to maturity at puberty to be a ...

that manifests itself in the absence of a

cervix The cervix or cervix uteri (Latin, 'neck of the uterus') is the lower part of the uterus (womb) in the human female reproductive system. The cervix is usually 2 to 3 cm long (~1 inch) and roughly cylindrical in shape, which changes durin ...

, the connecting structure between the

uterus The uterus (from Latin ''uterus'', plural ''uteri'') or womb () is the organ in the reproductive system of most female mammals, including humans that accommodates the embryonic and fetal development of one or more embryos until birth. The ...

and

vagina In mammals, the vagina is the elastic, muscular part of the female genital tract. In humans, it extends from the vestibule to the cervix. The outer vaginal opening is normally partly covered by a thin layer of mucosal tissue called the hy ...

. Milder forms of the condition, in which the cervix is present but deformed and nonfunctional, are known as cervical atresia or cervical dysgenesis.

Presentation

Patients with cervical agenesis typically present in early adolescence, around the time of

menarche Menarche ( ; ) is the first menstrual cycle, or first menstrual bleeding, in female humans. From both social and medical perspectives, it is often considered the central event of female puberty, as it signals the possibility of fertility. G ...

, with

amenorrhea Amenorrhea is the absence of a menstrual period in a woman of reproductive age. Physiological states of amenorrhoea are seen, most commonly, during pregnancy and lactation (breastfeeding). Outside the reproductive years, there is absence of mense ...

and cyclic pelvic pain caused by the obstruction of menstrual flow from the uterus.

Complications

If untreated, the accumulation of menstrual fluid in the uterus caused by cervical agenesis can lead to

hematocolpos Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is'' 'an accumulation of blood within the vagina' ...

hematosalpinx Hematosalpinx (sometimes also hemosalpinx) is a medical condition involving bleeding into the fallopian tubes. Symptoms A hematosalpinx from a tubal pregnancy may be associated with pelvic pain and uterine bleeding. A gynecologic ultrasound will ...

endometriosis Endometriosis is a disease of the female reproductive system in which cells similar to those in the endometrium, the layer of tissue that normally covers the inside of the uterus, grow outside the uterus. Most often this is on the ovaries, ...

endometrioma Endometrioma is the presence of tissue similar to, but distinct from, the endometrium in and sometimes on the ovary. It is the most common form of endometriosis. Endometrioma is found in 17–44% patients with endometriosis. More broadly, endometr ...

and pelvic

adhesions Adhesions are fibrous bands that form between tissues and organs, often as a result of injury during surgery. They may be thought of as internal scar tissue that connects tissues not normally connected. Pathophysiology Adhesions form as a natur ...

Pathophysiology

Cervical agenesis arises during

fetal development Prenatal development () includes the development of the embryo and of the fetus during a viviparous animal's gestation. Prenatal development starts with fertilization, in the germinal stage of embryonic development, and continues in fetal devel ...

, during which time the

paramesonephric duct Paramesonephric ducts (or Müllerian ducts) are paired ducts of the embryo that run down the lateral sides of the genital ridge and terminate at the sinus tubercle in the primitive urogenital sinus. In the female, they will develop to form the f ...

fails to canalize in formation of the cervix.

Diagnosis

The diagnosis of cervical agenesis can be made by magnetic resonance imaging, which is used to determine the presence or absence of a cervix. Although MRI can detect the absence of a cervix (agenesis), it is unable to show cervical dysgenesis (where the cervix is present, but malformed).

Ultrasound Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies fr ...

is a less reliable imaging study, but it is often the first choice by

gynecologist Gynaecology or gynecology (see spelling differences) is the area of medicine that involves the treatment of women's diseases, especially those of the reproductive organs. It is often paired with the field of obstetrics, forming the combined ar ...

s to establish a diagnosis and can identify a

hematometra Hematometra is a medical condition involving collection or retention of blood in the uterus. It is most commonly caused by an imperforate hymen or a transverse vaginal septum. Signs and symptoms Hematometra typically presents as cyclic, cramping ...

secondary to cervical agenesis.

Management

The first line of therapy after diagnosis typically involves the administration of the

combined oral contraceptive pill The combined oral contraceptive pill (COCP), often referred to as the birth control pill or colloquially as "the pill", is a type of birth control that is designed to be taken orally by women. The pill contains two important hormones: proges ...

medroxyprogesterone acetate Medroxyprogesterone acetate (MPA), also known as depot medroxyprogesterone acetate (DMPA) in injectable form and sold under the brand name Depo-Provera among others, is a hormonal medication of the progestin type. It is used as a method of b ...

or a

gonadotropin-releasing hormone agonist A gonadotropin-releasing hormone agonist (GnRH agonist) is a type of medication which affects gonadotropins and sex hormones. They are used for a variety of indications including in fertility medicine and to lower sex hormone levels in the treat ...

to suppress menstruation and thereby relieve pain. Surgically, cervical agenesis has historically been treated through

hysterectomy Hysterectomy is the surgical removal of the uterus. It may also involve removal of the cervix, ovaries ( oophorectomy), Fallopian tubes ( salpingectomy), and other surrounding structures. Usually performed by a gynecologist, a hysterectomy may ...

(removal of the uterus) to relieve symptoms caused by

(the accumulation of menstrual fluid in the vagina). Other surgical methods of management involve the creation of an

anastomotic An anastomosis (, plural anastomoses) is a connection or opening between two things (especially cavities or passages) that are normally diverging or branching, such as between blood vessels, leaf veins, or streams. Such a connection may be norm ...

connection between the uterus and vagina by

neovaginoplasty Vaginoplasty is any surgical procedure that results in the construction or reconstruction of the vagina. It is a type of genitoplasty. Pelvic organ prolapse is often treated with one or more surgeries to repair the vagina. Sometimes a vaginoplas ...

or recanalization of the cervix. Outcomes in these cases are generally poor, since the natural functions of the cervix—such as

mucus Mucus ( ) is a slippery aqueous secretion produced by, and covering, mucous membranes. It is typically produced from cells found in mucous glands, although it may also originate from mixed glands, which contain both serous and mucous cells. It ...

production and providing a barrier against ascending infection—cannot be replicated. Furthermore, the success rate of uterovaginal anastomosis is less than 50% and most patients require multiple surgeries while many develop cervical stenotis. Despite this, several pregnancies have been reported in women with cervical agenesis who underwent surgical treatment.

Epidemiology

Cervical agenesis is estimated to occur in 1 in 80,000 females. It is often associated with deformity of the vagina; one study found that 48% of patients with cervical agenesis had a normal, functional vagina, while the rest of the cases were accompanied by

vaginal hypoplasia Vaginal hypoplasia is the underdevelopment or incomplete development of the vagina. It is a birth defect or congenital abnormality of the female genitourinary system. Signs and symptoms Vaginal hypoplasia can vary in severity from being smaller t ...

References

External links

{{Female congenital anomalies of genital organs , state=expanded Congenital disorders of female genital organs