Primary Amenorrhea

Causes of primary amenorrhea
Patients with normal puberty but structural abnormality –
• Mullerian agenesis: A congenital malformation in which there is failure of development of mullerien duct responsible for development of female genital organ.
• Vaginal atresia: Vagina is abnormally closed or absent.
• Cryptomenorrhea/ Imperforate hymen is a condition where menstruation occurs but is not visible due to an obstruction of the outflow tract. Hymen is imperforate and do not allow the menstrual flow to come out. Patient feels cyclic pain and discomfort without any menstrual discharge.
Patients with growth delay and developmental retardation
Hypogonadism Gonads are the sex glands produce sex hormones. Sex hormones are responsible for reproductive function in human.
Gonads receive signals from pituitary gland in the form of FSH and LH to release sex hormone and pituitary receives signals from hypothalamus in the form of GnRH (gonadotropin releasing hormone). This is called hypothalamus-pituitary-ovarian axis.
Hypergonadotropic hypogonadism “signaling from hypothalamus and pituitary gland is normal but gonad are not able to produce sufficient quantity of sex hormone for normal functioning of sex organs.
Hypogonadotropic hypogonadism There is disturbance in signaling either from hypothalamus or pituitary i.e. disturbance in releasing hormones from hypothalamus or pituitary, due to which gonads cannot receive enough signals to produce sufficient quantity of sex hormones.
Patients with virilization “ increase amount of male sex hormones in female. This causes development of male secondary sexual characters in female.
• Congenital adrenal hyperplasia (CAH) “adrenal gland is a pair of endocrine produces sex steroids. Androgens are male hormones produced by adrenal gland. Hyperplasia of adrenal gland results in over production of androgens.
• Polycystic ovary syndrome (PCOS) “Disturbance in releasing of female sex hormones and increase amount of male hormone leads failure of development of egg each month in ovary result in amenorrhea.
Diagnosis of primary amenorrhea
Primary amenorrhea may be a symptom of many disorders. A thorough history and clinical examination has to be done. Relevant laboratory and other investigations including hormonal assays, karyotyping, pelvic ultrasonography, and diagnostic laparoscopy has to be done to confirm this.