A 28-year-old woman presents with amenorrhea for six months, along with intermittent hot flashes and night sweats during the same time period. She initially assumed that she was pregnant, but urine dipstick testing performed four months ago was negative. Her menarche was at 12 years of age, with her cycles being regular during her teenage years and early twenties, but becoming intermittent and irregular afterwards. She assumed that this was due to her taking part in athletic events. Her medical and surgical histories are unremarkable. However, her family history is significant for her mother attaining menopause at the age of 36, although this was not investigated at that time. She has been married for two years now, and is looking forward to starting a family. Repeat pregnancy dipstick testing is negative, as is a complete blood count, fasting plasma glucose, and renal and liver profiles. The endocrine assessment is only significant for a serum FSH of 103 IU/mL (normal: 3.5-12.5), LH of 92 IU/mL (normal: 2.4-12.6), and estradiol (E2) of 12 pg/mL (normal: 12.5-166). In particular, T4, TSH, and prolactin levels are within normal limits.
Serum FSH (after 1 month): 111 IU/mL (3.5-12.5)
Genetic studies are positive for an expanded allele (pre-mutation) of the FMR1 gene.
The pelvic ultrasound reveals a uterine volume of 161 cm3, with an endometrial thickness of 0.5 cm. The right ovarian volume is 2.17 cm3, and left ovarian volume is 1.28 cm3. A few follicles are visualized in both ovaries.
Dual-energy X-ray absorptiometry (DXA) shows a T score of -2.2 in L1-L4 lumbar spine and -1.8 in the neck of the femur. Reference ranges -------------------- Normal: +1.0 to -1.0 Osteopenia: -1.0 to -2.5 Osteoporosis: -2.5 to -3.0 Severe osteoporosis: less than -3.0