Background: Turner syndrome (TS) affects approximately one in 2500 live births in females. Scoliosis is one of the skeletal manifestations of TS, but most cases only require observation or conservative treatment. We e...Background: Turner syndrome (TS) affects approximately one in 2500 live births in females. Scoliosis is one of the skeletal manifestations of TS, but most cases only require observation or conservative treatment. We experienced two adolescent TS cases in which progression of scoliosis required surgical intervention, which is very rare in TS. Case Presentation: Case 1: An 11-year-old female with TS had a single thoracic curve that rapidly progressed to a triple major curve with a 76˚ main thoracic curve at age 13.5 years. Case 2: A 14-year-old female with TS had a 59˚ single thoracic curve. In both cases, growth hormone and estrogen replacement therapy were administered preoperatively and planned postoperatively. Posterior correction and instrumented fusion using simultaneous translation on two rods technique and direct vertebral rotation with the use of multiple rod introducers were successfully performed in both cases. No crankshaft phenomenon or distal adding on were observed during those postoperative courses. Conclusions: Although curve pattern of the deformity is similar to adolescent idiopathic scoliosis (AIS), bone quality in patient with TS is lower. In the context of surgical interventions for scoliosis associated with TS, it is imperative to employ surgical techniques that take into account the suboptimal bone quality. If continuation of hormone replacement therapy is planned after corrective surgery for scoliosis in TS patients, it is essential to follow the patient closely postoperatively until bone maturation is complete.展开更多
Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and inferti...Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities such as hypertension and primary hypothyroidism.展开更多
文摘Background: Turner syndrome (TS) affects approximately one in 2500 live births in females. Scoliosis is one of the skeletal manifestations of TS, but most cases only require observation or conservative treatment. We experienced two adolescent TS cases in which progression of scoliosis required surgical intervention, which is very rare in TS. Case Presentation: Case 1: An 11-year-old female with TS had a single thoracic curve that rapidly progressed to a triple major curve with a 76˚ main thoracic curve at age 13.5 years. Case 2: A 14-year-old female with TS had a 59˚ single thoracic curve. In both cases, growth hormone and estrogen replacement therapy were administered preoperatively and planned postoperatively. Posterior correction and instrumented fusion using simultaneous translation on two rods technique and direct vertebral rotation with the use of multiple rod introducers were successfully performed in both cases. No crankshaft phenomenon or distal adding on were observed during those postoperative courses. Conclusions: Although curve pattern of the deformity is similar to adolescent idiopathic scoliosis (AIS), bone quality in patient with TS is lower. In the context of surgical interventions for scoliosis associated with TS, it is imperative to employ surgical techniques that take into account the suboptimal bone quality. If continuation of hormone replacement therapy is planned after corrective surgery for scoliosis in TS patients, it is essential to follow the patient closely postoperatively until bone maturation is complete.
文摘Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities such as hypertension and primary hypothyroidism.
