If the karyotype is normal and the FSH level is elevated, it is important to consider the diagnosis of 17-hydroxylase deficiency because it may be a life-threatening disease if untreated. This diagnosis should be considered when testing indicates elevated serum progesterone (>3.0 ng/mL) level, a low 17α-hydroxyprogesterone (0.2 ng/mL) level, and an elevated serum deoxycorticosterone level (52). The diagnosis is confirmed with an ACTH stimulation test. After ACTH bolus administration, affected individuals have markedly increased levels of serum progesterone compared with baseline levels and no change in serum 17α-hydroxyprogesterone levels.
5.
If the screening FSH level is low, the diagnosis of hypogonadotropic hypogonadism is established. Central nervous system lesions should be ruled out by imaging using computed tomography (CT) or MRI, especially if galactorrhea, headaches, or visual field defects are identified. Suprasellar or intrasellar calcification in an abnormal sella is found in approximately 70% of patients with craniopharyngioma (38).
6.
Physiologic delay is a diagnosis of exclusion that is difficult to distinguish from insufficient GnRH secretion. The diagnosis can be supported by a history suggesting physiologic delay, an x-ray showing delayed bone age, and the absence of a central nervous system lesion on CT or MRI scanning.
Treatment of Amenorrhea Associated with the Absence of Secondary Sexual Characteristics
Individuals with primary amenorrhea associated with all forms of gonadal failure and hypergonadotropic hypogonadism need cyclic estrogen and progestogen therapy to initiate, mature, and maintain secondary sexual characteristics. Prevention of osteoporosis is an additional benefit of estrogen therapy: 1.
Therapy is usually initiated with 0.3 to 0.625 mg per day of conjugated estrogens or 0.5to 1 mg perday of estradiol.
2.
If the patient is short in stature, higher doses should not be used because premature closure of the epiphyses should be avoided. Most of these patients are of normal height, and higher estrogen doses may be used initially and reduced to the maintenance doses after several months.
3.
Estrogen can be given daily in combination with progestogen (medroxyprogesterone acetate or progesterone) to prevent hyperplasia that could result from unopposed estrogen stimulation of the endometrium in patients with a uterus. Medroxyprogesterone acetate may be administered at a dose of 2.5 mg daily every day of the month or 5 to 10 mg for 12 to 14 days per month. Oral micronized progesterone may be administered at a daily dose 100 mg every day of the month or 200 mg daily for 12 to 14 days per month. Cyclic hormone therapy (with 12 to 14 days of progestogen per month) more closely mimics the natural menstrual cycle. Progesterone suppositories may be administered at a dose of 50 mg daily or 100 mg for 12 to 14 days monthly.
4.
Occasionally, individuals with mosaicism and gonadal streaks may ovulate and be able to conceive either spontaneously or after the institution of estrogen therapy.
5.
If 17α-hydroxylase deficiency is confirmed, treatment is instituted with corticosteroid replacement and estrogen. Progestogen should be added to protect the endometrium from hyperplasia.
If possible, therapeutic measures are aimed at correcting the primary cause of amenorrhea: 1.