Diseases

Developmental Disorders of Vulva and Vagina

The developmental disorders of the vulva and vagina are a group of structural defects of the female reproductive organs that occurs during the fetal development. It may be ambiguous anatomical structure or dysfunctional normal appearing anatomical structure.

Published January 12, 2022

Causes and risk factors

The causes of developmental defect include genetic factors, use of certain drugs, and alcohol consumption during pregnancy. Hormonal causes, exposure to androgen may cause masculinization of reproductive organs.

Clinical presentation

Symptoms depend upon the type of defect. Developmental defect of vulva and vagina include imperforate hymen, absence of vagina, fused labia, ambiguous genitalia. Enlarged clitoris, one side of labia being larger than the other or unusually large on both sides, opening of the vagina very close to the urethra or anus, urethra located on the clitoris are seen on examination; abnormal “wall” of tissue [septum] in the vagina that may either partly or completely divide the vagina across or straight up and down causing 2 vaginal openings. Common symptoms include inability to empty the bladder [urinary retention], lack of menstrual periods, painful intercourse, and pelvic pain.

Investigation

Medical history by the patient and clinical examination by the doctor helps in diagnosis. Chromosomal studies and genetic testing may be required in case of ambiguous genitalia.

Treatment

Treatment involves counseling of the parents and child. Care of emotional and social concerns should be taken. Hormone therapy may be required. Corrective surgery which includes artificial reconstruction of the organs will contribute further to the treatment.