Our patient was a 65-year-old woman who was enrolled in the orthopaedics department of this hospital because of lumbar and back pain after seven times of percutaneous vertebroplasty (PVP).
The patient had been healthy until September 2019, when she got a fall carelessly and suffered from badly lumbago. She was evaluated in a local hospital because the pain was not alleviated after a rest. The lumbar spine X-ray showed the VCF at L1 and L4. She underwent the first PVP to stabilize the fractured vertebral bodies and relief the symptom.
The patient had a severe backache again because of falling down from the bed in July 2020. According to the X-ray, the patient underwent the PVP for the second time due to a new VCF at T11. One month later, she felt low back pain again after bending forward to pick up a potted flower. X-ray showed that there was an obvious VCF at T9 and the patient had another PVP. Though the lumbar and back pain has been relieved after three times surgeries, she took the 600mg calcium and 125 IU vitamin D daily since then.
In September 2020 the patient felt lumbar pain again without any recognizable precipitating factors. Bone mineral density (BMD) was measured with ultrasound BMD analyzer and the Speed of Sound (SOS) was 4016m/s, indicating that T-score of the patient was − 1.5. VCF at L2 could be seen clearly by X-ray and magnetic resonance imaging (MRI). Owing to this, she underwent a PVP for L2 immediately. After two months the low back pain became worse without any clear reasons. A new VCF at L3 was found and another PVP for L3 was administered. Additionally, the patient underwent another PVP at T12 ten days later because of the aggravation of pain after bending from the waist. Unfortunately, the situation of the patient was not improved this time.
Apart from that, her general past medical history was remarkable. The patient was amenorrhea all the time, which means menarche had not happened ever and the lifelong absence of menses.
The patient underwent cholecystectomy ten years ago because of gallbladder stones. Chronic superficial gastritis also confused her for almost eight years and she had the resection of gastric polyp in January 2021. Coronary heart disease (CHD) was diagnosed five years ago and stent was implanted in the stenosed artery. Doctors decided to implant another scaffold for the exacerbation of chest pain in January 2021. However, the operation was canceled after assessing and concluding that the patient could not bear the surgery due to her poor health.
The patient was transferred to this hospital for further evaluation and treatment after seven PVPs. BMD was measured again with dual-energy X-ray absorptiometry (DEXA) and the T-score was − 4.1. The whole spine erect lateral projection radiograph displayed seven vertebral bodies injected bone cement clearly (Fig. 1a).
Physical examination for this patient demonstrated short stature, short neck, and no breast development. Since amenorrhea is one of the most significant clinical manifestations of this patient, a three-dimensional transvaginal ultrasound examination was considered for differential diagnosis. The result indicated suspected congenital infantile uterus and the structure of bilateral ovaries was not observed. The levels of six serum sex hormones were measured and the result suggested low levels of estrogen and testosterone (Table 1). However, other etiologies could not be distinguished by the examinations that already had done for the reason that aging may affect all these results, especially the levels of sex hormone. Owing to this, G-banded karyotype analysis was performed and the result was 45,X[43]/47,XXX[17], indicating that the patient was a mosaicism of TS karyotype and Trisomy X syndrome karyotype (Fig. 1b).