Rokitansky–Kuster–Hauser syndrome

Rokitansky–Kuster–Hauser syndrome (RKHS), also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a rare disorder that affects the reproductive system of females. It is characterized by the underdevelopment or absence of the vagina and uterus. Women with this condition usually have normal external genitalia and normal ovarian function, which means they go through puberty with normal development of secondary sexual characteristics and menstruation may not occur due to the absence or obstruction of the reproductive tract.

Causes and Genetics

The exact cause of Rokitansky–Kuster–Hauser syndrome is unknown, but it is believed to be a result of a combination of genetic and environmental factors. It is not typically inherited in a simple Mendelian pattern, but some cases suggest a familial component, indicating a possible genetic predisposition. Research has identified mutations in several genes that may contribute to the condition, but these findings do not account for all cases.

Classification

Rokitansky–Kuster–Hauser syndrome is classified into two types:

• Type I (Typical MRKH): Involves the underdevelopment or absence of the uterus and upper two-thirds of the vagina, without renal or skeletal anomalies.
• Type II (Atypical MRKH): In addition to reproductive anomalies, individuals may have renal, skeletal, and sometimes hearing impairments.

Symptoms

The primary symptom of Rokitansky–Kuster–Hauser syndrome is primary amenorrhea, which is the absence of menstruation by age 16. Other symptoms may include:

• Difficulty with sexual intercourse due to the vaginal anomaly
• Absence of menstrual periods (due to the absence of the uterus)
• Normal development of secondary sexual characteristics such as breast development

Diagnosis

Diagnosis of Rokitansky–Kuster–Hauser syndrome typically involves a combination of physical examination, imaging studies (such as MRI or ultrasound), and sometimes laparoscopy. The diagnosis is often made during adolescence when the individual fails to menstruate.

Treatment

Treatment for Rokitansky–Kuster–Hauser syndrome focuses on the psychological and physical aspects. Options may include:

• Creation of a neovagina for sexual function, which can be achieved through surgical or non-surgical methods
• Counseling and psychological support to address feelings of grief, loss, and issues related to self-image and sexuality
• Hormone therapy if needed, for those with functioning ovaries but absent uterus, to maintain bone density and other health aspects

Prognosis

With appropriate treatment and support, individuals with Rokitansky–Kuster–Hauser syndrome can lead healthy and fulfilling lives. Fertility options may be limited, but with advances in reproductive technology, there are possibilities for parenthood, including surrogacy and adoption.

See Also

• Vaginal agenesis
• Müllerian agenesis
• Primary amenorrhea