scholarly journals A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Longyu Li ◽  
Yifang Shi ◽  
Nan Zhao ◽  
Zhengpei Liu ◽  
Zhe Zhao ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Rare Case ◽  
Percutaneous Vertebroplasty ◽  
Hormone Replacement ◽  
Estrogen Deficiency ◽  
Vertebral Compression Fractures ◽  
Severe Osteoporosis ◽  
Replacement Treatment ◽  
Number Of Patients

Abstract Background Turner syndrome (TS) is characterized as the complete or partial absence of one X chromosome and is an extremely rare disease affecting approximately 1:2500 live female births. Though the prevalence of osteoporosis among women with TS is estimated to be around 55–64% and they suffer more frequently from fractures than normal, few reports concerning TS patients with osteoporosis are able to be seen due to tiny number of patients. Case presentation Here, we report a rare case of TS with osteoporosis, who has undergone percutaneous vertebroplasty (PVP) seven times because of several vertebral compression fractures (VCFs). 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. TS is the underlying cause of low level of estrogen for this patient. The interaction of aging, estrogen deficiency and intestinal dysbacteriosis leads to her severe osteoporosis and multi-segmental VCFs. The aim of this report is to provide recommendations regarding the management of TS patients with osteoporosis by reviewing the clinical presentation of TS, the influence of estrogen deficiency in osteoporosis, etc. Conclusions Early diagnosis and hormone replacement treatment are essential for TS patients to prevent osteoporosis and reduce the risk of fractures. This is a rare case report describing TS patient with severe osteoporosis and VCFs.

scholarly journals A Patient With Turner Syndrome Recieved the Percutaneous Vertebroplasty Seven Times: a Case Report and Literature Review

2021 ◽  
Author(s):  
Longyu Li ◽  
Yifang Shi ◽  
Nan Zhao ◽  
Zhengpei Liu ◽  
Zhe Zhao ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Rare Case ◽  
Percutaneous Vertebroplasty ◽  
Hormone Replacement ◽  
Estrogen Deficiency ◽  
Vertebral Compression Fractures ◽  
Severe Osteoporosis ◽  
Replacement Treatment ◽  
Number Of Patients

Abstract Background Turner syndrome (TS) is characterized as the complete or partial absence of one X chromosome and is an extremely rare disease affecting approximately 1:2,500 live female births. Though the prevalence of osteoporosis among women with TS is estimated to be around 55-64% and they suffer more frequently from fractures than normal, few reports concerning TS patients with osteoporosis are able to be seen due to tiny number of patients. Case presentation Here we report a rare case of TS with osteoporosis, who has undergone percutaneous vertebroplasty (PVP) seven times because of several vertebral compression fractures (VCFs). 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. TS is the underlying cause of low level of estrogen for this patient. The interaction of aging, estrogen deficiency and intestinal dysbacteriosis leads to her severe osteoporosis and multi-segmental VCFs. The aim of this report is to provide recommendations regarding the management of TS patients with osteoporosis by reviewing the clinical presentation of TS, the influence of estrogen deficiency in osteoporosis, etc.Conclusions Early diagnosis and hormone replacement treatment are essential to prevent osteoporosis and reduce the risk of fractures. This is a rare case report describing TS patient with severe osteoporosis and VCFs.

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

scholarly journals A Turner Syndrome Case With Primary Amenorrhea Detected To Have Distal Radius Fracture And Severe Osteoporosis

2021 ◽  
Author(s):  
Nazlı Ölçilü ◽  
Figen Yılmaz ◽  
Jülide Öncü Alptekin ◽  
Banu Kıvran
Keyword(s):  
Bone Mineral Density ◽  
Distal Radius Fracture ◽  
Turner Syndrome ◽  
Distal Radius ◽  
Bone Mineral ◽  
Primary Amenorrhea ◽  
Mineral Density ◽  
Severe Osteoporosis ◽  
T Score ◽  
Replacement Treatment

Turner Syndrome (TS) is partial or total monosomy X with a prevalence of 2500/1 and characterized by premature ovarian failure, short stature, and multiple skeletal anomalies and is also called congenital ovarian dysplasia. Delayed puberty and estrogen deficiency are some of the determining factors for Osteoporosis formation in TS. Bone mineral density is among the best parameters to evaluate the bone mineral condition. Most female TS patients need estrogen replacement treatment to stimulate and continue feminization and to prevent osteoporosis. Forty-two years-old patient with TS was admitted to our clinic for rehabilitation following a right distal radius fracture occurring when she was trying to get up from the floor trying to get support from her right hand. The patient with primary amenorrhea wasn't admitted to the hospital before except her admittance for amenorrhea when she was 20 years old and was diagnosed with Turner syndrome. In her bone mineral density (DXA) measurement, L2-L4 vertebra BMD T-score was -4.0 (0.719 g/cm), Z score was -3.8, total femur T-score was 1.7 (0.788 g/cm) and femur neck T score was -1.7 (0.799). No pathological vertebral fractures were detected. The patient was given oral risedronate sodium 35 mg and calcium 1200 mg vitD 3 880 IU/day treatment for osteoporosis and followed-up. Our aim in this case presentation was to present the fact that severe osteoporosis and fracture may occur unless early hormone replacement treatment is started in a primary amenorrheic patient with Turner Syndrome.

scholarly journals Case Report : A Woman 27 Year Old with Mosaic Turner Syndrome Associate Hypogonadotropic Hypogonadism

2020 ◽  
Vol 1 (2) ◽  
pp. 42-47
Author(s):  
Cennikon Pakpahan ◽  
Bella Amanda ◽  
Berliana Hamidah ◽  
Rina Yudiwati
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Replacement Therapy ◽  
Turner Syndrome ◽  
Chromosomal Abnormality ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
History Taking ◽  
Second Sex ◽  
Chief Complaints

Background: Turner syndrome is a chromosomal abnormality found in phenotypically women who have one intact X chromosome and the absence of second sex chromosomes. Case: The patient is a 27-year-old Javanese girl. At the age of 14 years, she came to the gynecology clinic with chief complaints of amenorrhea and then given cycloprogynova by the physcian, the complaint improved but menstruation did not appear in the following month did not return to the gynecologist  for evaluation. At the age of 26, she returned to the gynecologist and then was given medicine to stimulate menstruation and  was referred to an internist-endocrinologist because of  a suspected hypothyroid. Then a few months later the patient returned to the gynecologist and then examined hormones, ultrasound, and karyotyping for evaluation as well as establishing the diagnosis. FT4 hormone examination results 0.87 ng / dl, TSHs 0.708 Uiu / mL, T3 (Total) 0.49 ng / mL, FSH 2.38 Miu / mL, LH 1.3 Miu / mL, prolactin 14.7 ng / ml, progesterone <0.10 ng / ml, estradiol <5 ng / ml indicates hypogonadotropic hypogonadism with hypothyroidism. Ultrasound results showed hypoplasia with uterine axis measuring 2.27 x 2.09 cm. Karyotyping result with 45x / 46xx indicate mosaic turner syndrome. Patients were given progestin, esthero and also thyrax for hormone replacement therapy. Discussion: Turner syndrome with hypogonadotropic hypgonadism is a rare variation of the turner syndrome. The definite cause is still uncertain. Some cases are usually accompanied by other hormone disorders such as thyroid and growth hormone. Conclusion: A 27-year-old woman with hypgonadotrophic hypgonadism associated with mosaic turner syndrome. The diagnosis is done by history taking, hormone examination, imaging, and karyotyping. treatment given progestin, estrogen, and thyrax.

scholarly journals A Rare Case of Swyer Syndrome

2019 ◽  
Vol 9 (2) ◽  
pp. 174-176
Author(s):  
Faria Afsana ◽  
Md Faruque Pathan ◽  
Shamshad Jahan Shelly
Keyword(s):  
Rare Case ◽  
Sex Differentiation ◽  
Hormone Replacement ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Primary Amenorrhea ◽  
Abdominal Ultrasonography ◽  
Replacement Treatment ◽  
Patient Reported ◽  
Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The present case report describes a patient with Swyer syndrome associated with gonadoblastoma. At age of 16 years, this patient reported with primary amenorrhea at Gynae Department of the BIRDEM general Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts and pubic hair; she had normal vagina and a small cervix. As her examination findings revealed normal, she was referred to Endocrine outpatient (OPD) for further evaluation. Her karyotyping revealed 46XXY, abdominal ultrasonography revealed adnexal tumor in both sides. On laparotomy, complex tumor was found in both adnexal regions and both ovaries were resected and histopathology revealed gonadoblastoma. The patient was subjected to subsequent chemotherapy. She was treated with a combination of estrogens and progestogens to induce cyclical bleeding, which she discontinued after 3 years. She was lost to follow up for 16 years and again reported to endocrine OPD with irregular menstrual bleeding. Presence of any residual gonadal functional tissue was searched both biochemically and by imaging and the result was negative. Her menstruation was stopped by progestogens and which later on withdrawn successfully without any further onset of menstruation. In conclusion, this report describes an extremely rare case of Swyer syndrome with gonadoblastoma and spontaneous menstruation after a long period of discontinuation of hormone replacement treatment. Birdem Med J 2019; 9(2): 174-176

scholarly journals Postmenopausal intestinal obstructive endometriosis: case report and review of the literature

2008 ◽  
Vol 126 (3) ◽  
pp. 190-193 ◽  
Author(s):  
Pedro Popoutchi ◽  
Carlos Renato dos Reis Lemos ◽  
Julio César Rosa e Silva ◽  
Antônio Alberto Nogueira ◽  
Omar Feres ◽  
...  
Keyword(s):  
Case Report ◽  
Present Report ◽  
Hormone Replacement ◽  
Malignant Lesion ◽  
Uterine Cavity ◽  
Tumor Formation ◽  
Review Of The Literature ◽  
Intestinal Endometriosis ◽  
Replacement Treatment ◽  
Endometrial Thickening

CONTEXT: Endometriosis is characterized by the presence of endometrial tissue outside the uterine cavity, which is commonly detected in gynecological practice but rarely reported as a coloproctological disorder. The objective of the present report was to discuss a rare case of postmenopausal intestinal endometriosis simulating a malignant lesion, following a review of the literature. CASE REPORT: A 74-year-old woman with complaints of hematochezia and tenesmus of two months' duration accompanied by liquid feces and pelvic pain, but with no other gastrointestinal or gynecological complaints, was referred to our service. She had been menopausal for 22 years, with no hormone replacement treatment, and had undergone panhysterectomy three years before the referral to us, due to endometrial thickening and a right adnexal cyst. Five months before this referral, she had undergone laparotomy due to acute obstructive abdomen, which revealed a tumor mass involving the small bowel. Anatomopathological examination of the enterectomy suggested a hypothesis of intestinal endometriosis. A proctological examination was normal. Computed tomography of the pelvis revealed thickening of the rectosigmoid transition and colonoscopy revealed friable tumor formation in the rectum. A biopsy of the lesion revealed mucosal fragments of endometrial type, which led to a review of the previous anatomopathological examination. The patient underwent rectosigmoidectomy with protective transversotomy, with a good postoperative course, and anatomical examination confirmed the intestinal endometriosis. The patient subsequently suffered a stenosing recurrence of the lesion and has undergone colostomy since then.

scholarly journals Microsurgical Resection of Glioblastoma in a Patient Infected with Covid-19: A Case Report

2020 ◽  
Author(s):  
Lívio Pereira de Macêdo ◽  
Kauê Franke ◽  
Auricélio Batista Cezar-Junior ◽  
Igor Vilela Faquini ◽  
Eduardo Vieira de Carvalho ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Rare Case ◽  
Healthcare Systems ◽  
High Morbidity ◽  
Neurosurgical Procedures ◽  
Number Of Patients ◽  
Microsurgical Resection ◽  
Early Surgical Treatment

AbstractThe COVID-19 pandemic has affected a large number of patients in all countries, overwhelming healthcare systems worldwide. In this scenario, surgical procedures became restricted, causing unacceptable delays in the treatment of certain pathologies, such as glioblastoma. Regarding this tumor with high morbidity and mortality, early surgical treatment is essential to increase the survival and quality of life of these patients. Association between COVID-19 and neurosurgical procedures is quite scarce in the literature, with a few reported cases. In the present study, we present a rare case of a patient undergoing surgical resection of glioblastoma with COVID-19.

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