I have a patient Miss M aged 24yrs/F ,has Primary amenorrhea. NO family history of delayed or absent puberty. No history of short stature. no salt losing crisis or ambigous genitalia. no history of tuberculosis or radiation or any illness.
On Examination , pubertal,breast tanner stage 4, pubic hair normal, local examination no evidence vaginal agenesis or clitromegaly, investigations routine investigations normal, karyotype-46 XX
FSH- 4.75 IU/L, LH-9.56 IU/L, TESTOSTERONE-47ng/dl, PROLACTIN-12.63 ng/ml, USG-normal organs except small uterus for the age, both ovaries normal, most importantly she is not responding to medroxy progesterone or OCP's,
My questions are for the expert-
1.WHAT is the diagnosis?
2.any further investigations are required ?
3.how to manage the case?
thank you, dr arun kannan
Presuming that this young woman’s physical examination is entirely normal, it is likely that the diagnosis is hypothalamic amenorrhea. While it is true that the vast majority of these women present with secondary amenorrhea, that need not be the case. I also presume her thyroid function is normal. When both FSH and LH values are relatively low (<10 mIU/ml), it is always wise to obtain some evaluation of the sella turcica to rule out a tumor. “In the old days,” I would merely obtain a coned down view of the sella to see if there was evidence of calcification or any gross abnormality – and over the years I picked up a handful of abnormalities, including craniopharyngiomas and so-called “nonfunctioning” pituitary tumors.
But common things are common, and the likelihood is that this is hypothalamic amenorrhea. To determine if this is likely, it is wise to question this individual about her lifestyle. This disorder is more common among women who are thin, highly educated, follow diets strictly (often vegetarian), and engage in some form of regular endurance training. In the absence of any of these features, one may elicit a history of sexual abuse as a child or rape or incest or some other traumatic event such as the loss of a beloved friend or relative. Professional counseling may be important in helping the patient resolve any issues and may lead to menstruation and ovulation. Even with resolution, however, ovulation need not occur.
The patient should be counseled that she may need assistance in achieving a pregnancy when/if she wishes children. It is simplest to treat these individuals with low dose oral contraceptives, but patients must be counseled that they will likely still be amenorrheic when the contraceptive is discontinued. Alternatively one may provide estrogen and a progestogen. (I administer these cyclically, typically adding the progestogen for 14 days every 8 weeks – though this kind of regimen is not approved by the FDA.) I often administer an estradiol patch at a daily dose of 50 to 100 micrograms and add 5-10 mg of micronized progesterone hs every 8 weeks (or even 12 weeks if the patient wishes fewer menses). This regimen will NOT necessarily stop a spontaneous ovulation, and individuals should be counseled regarding contraception if they are sexually active. Ovulation may precede return of menses. The first symptom of too much estrogen is breast tenderness that persists, but it is important to remember that young women commonly need twice as much estrogen as do postmenopausal women. I find that 10 mg of progesterone may lead to some depression in some patients so this too should be monitored.
Dr Robert Rebar