2.1 Study design

A retrospective chart review was performed to identify all patients with TS seen at a single center academic pediatric institution from 2007 to 2021 (see Table 1). Of these, inclusion criteria was defined by the presence of concomitant severe scoliosis or other spinal anomalies, defined by a major coronal curve of 45° or greater. Patients with no history of scoliosis or major coronal curves less than 45° were excluded. Coronal curve angles were measured by two independent reviewers. If measured angles differed by greater than 5°, a third reviewer was utilized. Demographic, clinical, surgical, and radiologic data was collected at both pre- and post-intervention time points for all patients with TS who presented with severe scoliosis or other spinal anomalies. The study was approved by the Institutional Review Board of the Ann & Robert H. Lurie Children's Hospital of Chicago. The requirement for informed consent was waived for this retrospective study. We queried the hospital's electronic medical record (EPIC ®) for patient's diagnosed with Turner syndrome from 2007 to 2021 by using search terms “Turner syndrome” and “Gonadal dysgenesis”, as well as querying for ICD9 and ICD10 codes of 758.6 and q96.9, which represented gonadal dysgenesis and TS diagnoses respectively. Exclusion criteria included patients that did not have a confirmed TS karyotype, TS mosaicism, or TS phenotype diagnosis after chart review, or patients that were seen remotely in the academic center by other subspecialists who were not screened for scoliosis and did not follow up in the Endocrine or Orthopaedic clinics.

3.1 Patient 1

Patient 1 presented as a three year-old female with TS (karyotype: 45, X). She was diagnosed with congenital thoracolumbar scoliosis at three years old and was managed with a thoracic lumbar sacral orthosis (TLSO) brace 8–10 h a day for six years. Despite TLSO bracing, follow-up radiographic imaging demonstrated worsening spinal curvatures, prompting a recommendation for a PSF which was performed at eight years old at our institution from T2-L3 with 5.5 mm titanium DePuy© instrumentation, 5-level posterior vertebral Ponte osteotomy, autograft, and allograft. Post-operatively, her radiographs revealed a major coronal curve measuring 85°, indicating stabilization of her spinal curvature compared to her preoperative major coronal curve measuring 105° (Table 2). Follow up coronal curvature 2 years post-operatively remained stable at 85°. Postoperative complications included mild subcutaneous emphysema within the soft tissues of the upper back and a small pleural effusion tracking along the right hemithorax and intermittent constipation. Recovery was otherwise uneventful and the patient was followed for six months postoperatively with no residual pain.

3.2 Patient 2

Patient 2 presented as an eleven year-old female with TS (Karyotype: 45X/46 Xi(Xq)), and leftward curvature of the upper thoracic spine from T1 to T4 with a major coronal curve measuring 64° (Table 2; Fig. 1). She also endorsed a history of daily mid to low back pain for an unspecified duration. Her scoliosis was initially managed with physical therapy once a month and TLSO bracing for 8–10 h a night for six years. After five years of bracing, the patient reported her back pain had resolved. One year later, however, the patient was recommended to undergo PSF due to worsening spinal curvatures despite bracing and physical therapy.

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Fig. 1 Patient 2: (A) Preoperative AP spine; (B) Post-operative AP spine.

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At 19 years old, the patient underwent a PSF at our institution from T2-L1 with 5.5 mm titanium DePuy© instrumentation, 5-level posterior vertebral Ponte osteotomy, autograft, and allograft with no perioperative complications. Postoperatively, her radiographs revealed a major coronal curve measuring 50°, improving from her preoperative coronal curve of 64° (Table 2; Fig. 1). Follow up coronal curvature was stable at 50° 3 days after surgery. No further follow-up imaging was done following this. After surgery, the patient reported occasional upper thoracic pain that was adequately controlled with oxycodone, diazepam, and acetaminophen. She was able to walk 20–30 min per day without difficulty. Three months after surgery, the patient began to report daily, intermittent head and backaches, which were adequately controlled with ibuprofen and acetaminophen. Recovery was otherwise uneventful and the patient was followed for nine months postoperatively.

3.3 Patient 3

Patient 3 presented as a 14 year-old female with a history of TS (karyotype: not specified) and scoliosis diagnosed at the age of 14 (Table 1). During her initial evaluation at this institution, the patient was recommended to undergo PSF, which she underwent within the same year at a different institution. No other treatment modalities were attempted. Preoperative radiographs demonstrated a major coronal curve measuring 46° (Table 2). Postoperative radiographs demonstrated a coronal curve measuring 19° measured from the superior endplate of T10 and the superior endplate of T4, suggesting not only stabilization, but improvement of her scoliosis (Table 2). Follow up coronal curvature 2 months after surgery showed slight improvement at 18°.Recovery was uneventful and the patient continued to be followed for two years with no reported complications.

3.4 Patient 4

Patient 4 presented as a four year-old female with a history of TS (Karyotype: 45, X) and gonadal dysgenesis after undergoing a PSF from T9 to T11 performed at an outside institution. She was originally incidentally diagnosed with congenital kyphosis at the T10 level that same year when a CT scan was performed to evaluate streak ovaries related to her TS. Preoperative radiographs and CT demonstrated a posterior displacement of the T10 vertebral body, secondary to congenital shortening, and a congenital bony anomaly of T10 with a bone defect involving the anterior portion of the vertebral body, resulting in mild kyphosis. One week later, she underwent PSF from T9-T11 with in situ homogenous femoral head grafts to the spine with no postoperative complications.

As radiographic images were unable to be obtained for this patient, the radiologist report was utilized, detailing a slight right thoracic curvature with hemivertebra at T10 with anterior subluxation of the T9 vertebral body on T10. A fiberglass spinal brace was used for eight months following the surgery but was discontinued due to an allergic skin rash from the brace material.

4.1 Patient 5

Patient 5 presented as an eight year-old female with a history of TS (Karyotype: not specified) and spinal asymmetry which was first noted at the age of 8 at an outside institution. Her scoliosis was initially managed with a Boston brace for 23 h each day for five years starting at age eight. The patient first presented to our institution at 13 years old, with radiographs demonstrating a major coronal curve measuring 66° (Table 2). The patient was unable to tolerate this rigorous bracing protocol and the parents chose to transfer her care to a chiropractor for further management.

Five years after her initial scoliosis diagnosis, reevaluation revealed a convex right curvature of the thoracic and upper lumbar spine with a major coronal curve measuring 66° measured from T3 to L2 (Table 2; Fig. 2). There was also a convex left curvature of the mid to lower lumbar spine with a Cobb angle of 32˘ measured from L2 to L5. It was determined that the severity of her spinal curvature was unlikely to be stabilized with bracing even if she were able to tolerate it. According to the evaluating orthopedist at re-evaluation, her bone age was greater than 10 and warranted a PSF in order to stabilize and improve her spinal curvature. However, the parents declined surgical intervention and elected to continue care with the chiropractor. The chiropractor subsequently recommended a ScoliBrace® in the morning and use of a Traction Chair (Table 2).

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Fig. 2 Patient 5: A) Pre-bracing AP spine taken on 5/26/17; B) Post-bracing AP spine taken on 7/19/22.

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At a subsequent follow-up visit eight months later, radiographs demonstrated a stable 60° right thoracic curve. She was recommended to continue with the prior bracing protocol as her curve was essentially unchanged compared to previous radiographs, and even mildly improved. It was discussed that eventually she would require PSF from T3 down to L3 or L4 if her spinal curvature worsened. Five years after her initial diagnosis of scoliosis, subsequent radiographs taken during chiropractic follow-up visits demonstrated continued progression of her scoliosis, with a Cobb angle of 76.7° (Table 2; Fig. 2). The patient's family refused treatment with growth hormone.

4.2 Patient 6

Patient 6 presented to our institution as a 13 years old female with a history of TS (45, X). Upon initial presentation to our institution, radiographic imaging revealed a Cobb angle of 34.0° with a 30° thoracic curve (Table 2). A brace was recommended but not obtained due to potential for heart surgery at the time. Ten months after her initial presentation, repeat radiographic imaging revealed her thoracic dextroscoliosis to be essentially unchanged, as demonstrated by a Cobb angle of 36.6°. Upon reevaluation three years later, repeat radiographic imaging demonstrated progression of her scoliosis, with a right thoracic curvature of 47° and a Cobb angle of 45.1°, but relatively stable kyphosis at 52° (Table 2). It was determined to be at such a magnitude that bracing was no longer appropriate. Observation was recommended as surgery was contraindicated due to her cardiac history. The patient eventually died at the age of 18 years due to exacerbation of her pre-existing cardiac conditions.

10.1 Participants

A retrospective chart review was performed to identify 306 patients with TS seen at a single center academic pediatric institution from 2007 to 2021. TS cases were then cross referenced for the presence of concomitant severe scoliosis, defined by a major coronal curve measuring 45° or greater. Six patients were identified to have severe idiopathic type or congenital scoliosis.

14.1 Key results

The prevalence, treatment, and subsequent clinical outcomes of scoliosis and other spinal anomalies in TS is an underexplored topic, resulting in a critical gap in the literature. The prevalence of TS spinal deformity was 12% in our recent cohort of 306 patients queried from a retrospective chart review at a single pediatric academic referral center. PSF rates for severe spinal deformity patients were 11% and bracing rates were 10.5%. Of the 306 patients identified to have a diagnosis of TS, six were determined to have severe scoliosis or kyphosis secondary to a congenital spinal anomaly, in the case of Patient 4. Of these six patients, four underwent PSF, one utilized bracing only, and one was lost to follow up. In one case (Patient 4), a brace was used postoperatively to stabilize the spine and assist with walking. In Patients 1 and 2, bracing was utilized as the initial intervention, but both of these patients eventually elected to pursue a PSF.

All patients who underwent PSF demonstrated significant improvement in their spinal curvatures after surgery. Patient 1 demonstrated a postoperative Cobb angle of 85°, improving from her preoperative Cobb angle of 105°. Patient 2 demonstrated improvement in her rightward mid thoracic curve with preoperative and postoperative Cobb angles measuring 64° and 45°, respectively. Patient 3 demonstrated a postoperative Cobb angle of 19°, improving from her preoperative Cobb angle of 46°. Although Cobb angles were unable to be obtained for Patient 4, available radiologic reports and orthopaedic assessments deemed her spine to show subjective improvement after surgery.

Regarding bracing, Patient 5 demonstrated worsening of her spinal curvature despite 3–4 h of daily brace use, with Cobb angles of 66° and 76.7°, taken five years apart. However, orthopaedic assessment continued to recommend surgical intervention in the future, as the patient's spinal curvature was likely to progress even after skeletal maturity was reached. Patient 6 was recommended to begin bracing after radiographic imaging revealed a 30° thoracic curve and Cobb angle of 34.0°. However, bracing was deferred at this time due to the patient's upcoming cardiac surgery. As her spinal curvature eventually progressed, as demonstrated by repeat radiographic imaging showing a Cobb angle of 45.1°, the brace was eventually discontinued based on its magnitude.

Postoperative complications occurred in two patients in the PSF cohort. Complications were defined as adverse events that were not typical for the treatment course. Patient 1 was reported to have subcutaneous soft tissue emphysema, pleural effusion and intermittent constipation, while Patient 2 was reported to have intermittent headaches. All complications eventually resolved with no further complications at subsequent postoperative follow up visits. Patients who underwent bracing demonstrated no complications other than an allergic rash related to the brace material.