What are the treatment options for hypogonadotropic hypogonadism amenorrhea?

Updated: Jan 08, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Answer

In a patient who fails to enter puberty, hypergonadotropic hypogonadism (gonadal failure) is most often associated with Turner syndrome or other gonadal dysgenesis disorders, such as Swyer syndrome. An X chromosome deletion (Turner syndrome), ring formation, partial deletion, or translocation is the most common diagnosis in this setting. A karyotype is required to detect any Y-containing chromatin.

Patients who have a Y chromosome have a 25% chance of developing a gonadal tumor. The gonads should immediately be removed. [70] These gonads are nonfunctioning; therefore adult height and bone mass are not affected by their presence. Hormone replacement therapy (HRT) should be offered to allow completion of puberty in a controlled fashion, similar to her peers, and should facilitate maximum bone density development. [71] Turner syndrome is associated with ear and renal disease; evaluation of these organ systems is indicated.

Premature ovarian failure after puberty occurs in 1% of adult women. Treatment should be decided on an individual basis. Some patients may require estrogen replacement therapy (ERT) for hot flashes and other symptomatic menopausal issues. Long-term E2 use should be individualized. [72] A small number of women with repetitively elevated FSH levels may have a resumption of cycles for a short period before proceeding to complete menopause. No medications or therapies have been found to induce normal cycling; its occurrence is sporadic, spontaneous, and not inducible.

Ovarian failure that occurs in patients younger than 30 years requires a karyotype to detect any Y chromatin and an evaluation of the fragile X area of the X chromosome. A strong family history of premature ovarian failure may require a referral for evaluation of GALT and autoimmune regulatory gene (AIRE) mutations and other autosomal disorders. [73] Documentation of a fragile X area requires other family members to receive genetic counseling. With a normal karyotype, evaluation of other autoimmune disease should be considered, including antithyroid and antiadrenal antibody titers. [74] Bone density should be monitored and treated appropriately using hormonal or nonhormonal therapy.


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