scholarly journals Identification of NR0B1 Gene Mutation and Analysis of Bone Damages and Drug Treatment Effect in a Big Family With X-linked Adrenal Hypoplasia Congenita: a Case Report

2021 ◽  
Author(s):  
XIAOHUI TAO ◽  
LI LIU ◽  
XIAOYUN LIN ◽  
TIAN XU ◽  
HUA YUE ◽  
...  
Keyword(s):  
Mass Density ◽  
Hypogonadotropic Hypogonadism ◽  
Clinical Manifestations ◽  
Osteonecrosis Of The Jaw ◽  
Bone Mass Density ◽  
Insertion Mutation ◽  
Case Presentation ◽  
Skeletal Complications ◽  
Adrenal Hypoplasia

Abstract Background: X-linked congenital adrenocortical hypoplasia (XL-AHC) is a rare disorder, which is characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism. However, the skeletal complications caused by the disease were rarely reported, not to mention the treatment.Case presentation: The patient from a big family with XL-AHC was identified carrying a homozygous insertion mutation（p.Thr193GlyfsX13）in DAX-1 gene. The diagnosis of secondary osteoporosis was made after imaging, laboratory and bone mass density examinations. However, he showed a suboptimal response to bisphosphonates during 2 years of follow-up, even suffered from atypical femoral fracture (AFF). Now it had been replaced by menatetrenone, bone healing was satisfactory. Conclusions: We harbored the idea that clinicians should not only focus on typical clinical manifestations of XL-AHC, but also pay attention to the skeletal complications in clinical practice. Conventional anti-osteoporosis drugs may cause side effects such as AFF and osteonecrosis of the jaw (ONJ), which was rare in general osteoporosis patients. In other words, anabolic agent may be a better choice.

scholarly journals MON-355 Charge Syndrome: Unusual Cause of Hypogonadism Leading to Osteoporosis

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ankur Modi ◽  
Veronica Piziak
Keyword(s):  
Bone Mineralization ◽  
Mass Density ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Charge Syndrome ◽  
Delayed Puberty ◽  
Bone Mass Density ◽  
Z Score ◽  
Total Hip

Abstract CHARGE syndrome is an unusual cause of hypogonadism; it is characterized by coloboma, heart defect, ateresia choanae, retarded growth and development, genital hypoplasia and ear anomalies. Two-thirds of affected patients have a mutation within the chromodomain helicase DNA-binding protein-7 gene, which is involved in embryonic development. The involvement of this gene in the pathogenesis of isolated idiopathic hypogonadotropic hypogonadism (HH) has been postulated. The reported incidence of this syndrome ranges from 0.1–0.2/10000 (1). A 24 year old female presented to our facility for further management of her HH and osteoporosis in the setting of her CHARGE syndrome. She was born full-term and diagnosed with this condition at the age of 6. Formal genetic testing as an adult demonstrated mutation within the CHD7 gene (chr 8:61,757,970). She had delayed puberty secondary to her hypogonadism; she was not treated with HRT as benefits were not considered significantly sufficient. She subsequently developed osteoporosis at the age of 20 which was treated at an outside facility with pamidronate IV Q4 months along with calcium and Vitamin D supplementation. Her initial Dual-energy X-ray absorptiometry (DXA) showed scoliosis in the lumbar spine [bone mass density (BMD): 0.514,osteoporosis by Z-score] with total hip showing BMD: 0.738,osteopenia by Z-score. Follow-up DXA after 3 years showed statistically significant improvement in bone mineralization of her L-spine [BMD: 0.595, +16%] and total hip [BMD: 0.777, +13.5%]. She presented to our facility in 2018 with labs showing normal calcium and 25-OH D; treatment with pamidronate was continued. She had a repeat DXA in 2019 which showed Z-scores of 0 in the left and right femoral necks. She was given the option of continued treatment for her osteoporosis versus monitoring and chose the latter with follow-up DXA. Hypogonadotropic hypogonadism is associated with delays in puberty or pubertal arrest. Luteinizing Hormone Releasing Hormone and HCG tests should be performed within the four months of life or at puberty in cases of hypogenitalism. GH deficiency should be investigated as a cause for growth retardation with GH stimulation levels. Hormone replacement is often required at puberty for females and is indicated for prevention of osteoporosis. Radiological testing with DXA scan should be included. Early proper endocrinological assessment and management is essential for adequate sexual development in these patients; this leads to improved overall quality of life along with prevention of serious morbidities, including bone demineralization (2). 1. Blake K D, Prasad C. CHARGE syndrome. Orphanet Journal of Rare Diseases 2006, 1:34. 2. Foppiani L, Maffe A. CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation. Andrologia (2010). 42: 326–330.

scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

scholarly journals Long-Term Effects of Laparoscopic Sleeve Gastrectomy and Roux-en-Y Gastric Bypass on Body Composition and Bone Mass Density

Obesity Facts ◽  
2020 ◽  
pp. 1-10
Author(s):  
Julian Bühler ◽  
Silvan Rast ◽  
Christoph Beglinger ◽  
Ralph Peterli ◽  
Thomas Peters ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gastric Bypass ◽  
Body Composition ◽  
Sleeve Gastrectomy ◽  
Bone Mass ◽  
Laparoscopic Sleeve Gastrectomy ◽  
Mass Density ◽  
Bone Mass Density

<b><i>Background:</i></b> Currently, the two most common bariatric procedures are laparoscopic sleeve gastrectomy (LSG) and laparoscopic Roux-en-Y gastric bypass (LRYGB). Long-term data comparing the two interventions in terms of their effect on body composition and bone mass density (BMD) are scarce. <b><i>Objective:</i></b> The aim of this study was to assess body composition and BMD at least 5 years after LSG and LRYGB. <b><i>Setting:</i></b> Department of Endocrinology and Nutrition, St. Claraspital Basel and St. Clara Research Ltd., Basel, Switzerland. <b><i>Methods:</i></b>Bariatric patients at least 5 years after surgery (LSG or LRYGB) were recruited, and body composition and BMD were measured by means of dual-energy X-ray absorptiometry. Data from body composition before surgery were included in the analysis. Blood samples were taken for determination of plasma calcium, parathyroid hormone, vitamin D<sub>3</sub>, alkaline phosphatase, and C-terminal telopeptide, and the individual risk for osteoporotic fracture assessed by the Fracture Risk Assessment Tool score was calculated. After surgery, all patients received multivitamins, vitamin D<sub>3</sub>, and zinc. In addition, LRYGB patients were prescribed calcium. <b><i>Results:</i></b> A total of 142 patients were included, 72 LSG and 70 LRYGB, before surgery: median body mass index 43.1, median age 45.5 years, 62.7% females. Follow-up after a median of 6.7 years. For LRYGB, the percentage total weight loss at follow-up was 26.3% and for LSG 24.1% (<i>p</i> = 0.243). LRYGB led to a slightly lower fat percentage in body composition. At follow-up, 45% of both groups had a T score at the femoral neck below –1, indicating osteopenia. No clinically relevant difference in BMD was found between the groups. <b><i>Conclusions:</i></b>At 6.7 years after surgery, no difference in body composition and BMD between LRYGB and LSG was found. Deficiencies and bone loss remain an issue after both interventions and should be monitored.

scholarly journals A Solitary Giant Neurofibroma of Inguinal Region—A Case Report

2020 ◽  
Author(s):  
Haiying Zhou ◽  
Hui Lu
Keyword(s):  
Tumor Resection ◽  
Clinical Manifestations ◽  
Inguinal Region ◽  
Case Presentation ◽  
Neurogenic Tumors ◽  
Long Time ◽  
Giant Neurofibroma ◽  
History Of ◽  
Recurrence Tendency

Abstract Background:Neurofibroma is a rare nerve sheath tumorofneuroectodermal origin, especially the huge and isolated neurofibroma located in the inguinal region. To our knowledge, no such case has previously been reported.Case presentation:We report a case of 34-year-old male patient with a 4-year history of progressive enlargement of the medial root mass in his left thigh with sitting and standing disorders along with pain. The tumor was completely removed by operation, and pathological diagnosisshowed neurofibroma. There was no obvious neurologic defect after surgery, and no recurrence tendency was found in the follow-up of 2years.Conclusions:For a large solitary mass with slow growth and no malignant clinical manifestations for a long time, clinicians can not rule out the hypothetical diagnosis of neurofibroma, even though its growth site is very rare, such as this case of a huge tumor located in the groin. For neurogenic tumors, early operation should be performed, and the prognosis of patients after tumor resection isexcellent.

scholarly journals Tubal choriocarcinoma presented as ruptured ectopic pregnancy: a case report and review of the literature

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Shengjie Xu ◽  
Xiaohong Song ◽  
Chengjuan Jin ◽  
Yanli Li
Keyword(s):  
Ectopic Pregnancy ◽  
Tumor Metastasis ◽  
Actinomycin D ◽  
Clinical Manifestations ◽  
Case Presentation ◽  
Delayed Treatment ◽  
Missed Diagnosis ◽  
Β Hcg ◽  
Histopathological Results

Abstract Background Tubal choriocarcinoma is an extremely rare but highly malignant trophoblastic tumor, which may be either gestational or non-gestational in origin. Due to atypical clinical manifestations and symptoms similar to ectopic pregnancy, it is easily to be confused with ectopic pregnancy. In addition, inadequate understanding of this rare disease by clinicians often leads to misdiagnosis or missed diagnosis, which in turn results in delayed treatment or even tumor metastasis. Case presentation This report summarized a case of a woman who was finally diagnosed as tubal choriocarcinoma through the follow-up of serum β hCG levels and histopathological results after undergoing salpingectomy for being misdiagnosed as ectopic pregnancy. Five courses of adjuvant chemotherapy (5-fluorouracil, actinomycin-D, vinorelbine regime) have been administered to the patient in the prevention of any recurrences. During 1-year follow-up, the patient was asymptomatic and presented no evidence of recurrence. Conclusions Tubal choriocarcinoma is easily to be confused with ectopic pregnancy. By analyzing this case and previous related cases, we aimed to provide references for clinicians in the diagnosis and treatment of tubal choriocarcinoma.

scholarly journals Malignant Transformation of Liver Cysts Into Cholangiocarcinoma During Follow-up: Potential Dangers of Liver Cysts

2021 ◽  
Author(s):  
Fu-sheng Liu ◽  
Ke-lu Li ◽  
Yue-ming He ◽  
Zhong-lin Zhang ◽  
Yu-feng Yuan ◽  
...  
Keyword(s):  
Cyst Wall ◽  
Clinical Manifestations ◽  
Liver Cyst ◽  
Common Disease ◽  
Case Presentation ◽  
Liver Cysts ◽  
Cystic Tumors ◽  
Laboratory Examinations ◽  
Malignant Changes

Abstract Background: The liver cyst is a common disease in hepatobiliary surgery. Most patients have no apparent symptoms and are usually diagnosed accidentally during imaging examinations. The vast majority of patients with liver cysts follow a benign course, with very few serious complications and rare reports of malignant changes. Case Presentation: We present two cases of liver cysts that evolved into intrahepatic tumors during the follow-up process. The first patient had undergone a fenestration and drainage operation for the liver cyst, and the cancer was found at the cyst’s position in the third year after the procedure. Microscopically, bile duct cells formed the cyst wall. Tumor cells can be seen on the cyst wall and its surroundings to form adenoid structures of different sizes, shapes, and irregular arrangements, some of which are arranged in clusters. The second patient was regularly rechecked after discovering liver cysts, and a new mass appeared very close to the cyst. The clinical manifestations and laboratory examinations of the two patients lacked specificity, the preoperative diagnosis was unclear, and the postoperative pathology confirmed cholangiocarcinoma.Conclusions: Our cases indicate that liver cysts may lead to the occurrence of malignant intrahepatic cholangiocarcinoma. Therefore, follow-up of particular liver cysts is necessary, and the differential diagnosis of the intrahepatic cystic tumors needs to include cholangiocarcinoma.

scholarly journals Long-term effects of laparoscopic sleeve gastrectomy and Roux-Y-gastric bypass on body composition and bone mass density

2021 ◽  
Vol 108 (Supplement_4) ◽  
Author(s):  
S Rast ◽  
J Bühler ◽  
C Beglinger ◽  
R Peterli ◽  
T Peters ◽  
...  
Keyword(s):  
Gastric Bypass ◽  
Body Composition ◽  
Sleeve Gastrectomy ◽  
Bone Mass ◽  
Vitamin D3 ◽  
Mass Density ◽  
Bone Mass Density ◽  
Post Surgery

Abstract Objective Currently, the two most common bariatric procedures are laparoscopic sleeve gastrectomy (LSG) and laparoscopic gastric bypass (LRYGB). Long-term data comparing the two interventions in terms of their effect on body composition and bone mass density (BMD) is scarce. The aim of this study was to assess body composition and BMD at least five years after sleeve gastrectomy (LSG) and gastric bypass (LRYGB). Methods Bariatric patients at least five years post-surgery (LSG or LRYGB) were recruited and body composition and BMD was measured by means of DEXA. Data from body composition before surgery was included in the analysis. Blood samples were taken for determination of plasma calcium, parathyroid hormone (PTH), Vitamin D3, alkaline phosphatase and C-terminal telopeptide (CTX), and individual risk for osteoporotic fracture assessed by The Fracture Risk Assessment Tool (FRAX) score was calculated. After surgery, all patients received multivitamins, vitamin D3, and zinc. In addition, LRYGB-patients were prescribed calcium. Results A total of 142 patients were included, 72 LSG and 70 LRYGB, before surgery: median BMI 43.1 kg/m2, median age 45.5 years, 62.7% females. Follow-up after a median of 6.7 years. For LRYGB, percentage total weight loss (%TWL) at follow up was 26.3%, and for LSG 24.1%, (p = 0.243). LRYGB lead to a slightly lower fat percentage in body composition. At follow-up, 45% of both groups had a T-score at the femoral neck below -1, indicating osteopenia. No clinically relevant difference between the groups in BMD was found. Conclusion At 6.7 years post-surgery, no difference in body composition and BMD between LRYGB and LSG was found. Deficiencies and bone loss remain an issue after both interventions and should be monitored.

scholarly journals Symptomatic pulmonary sclerosing hemangioma: a rare case of a solitary pulmonary nodule in a woman of advanced age

2019 ◽  
Vol 47 (5) ◽  
pp. 2302-2308 ◽  
Author(s):  
Zhu-Qing Yuan ◽  
Qian Wang ◽  
Min Bao
Keyword(s):  
Symptom Relief ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Large Mass ◽  
Advanced Age ◽  
Case Presentation ◽  
Sclerosing Hemangioma ◽  
Pulmonary Sclerosing Hemangioma ◽  
History Of

Background Pulmonary sclerosing hemangioma (PSH) is a rare tumor that usually develops in middle-aged Asian women. PSH has four histological types (hemorrhagic, sclerotic, solid, and papillary) and often grows slowly in a lower lobe of the lung. Preoperative misdiagnosis frequently occurs because of the absence of specific clinical manifestations and imaging findings. Few reports have described PSH in women of advanced age. Case presentation: A 75-year-old woman presented to our hospital in China with a 5-day history of productive cough and intermittent hemoptysis. Computed tomography indicated bronchiectasis and a large mass in the left inferior lobe of the lung. Treatment of the bronchiectasis provided no symptom relief. The hemoptysis resolved following left lower pulmonary lobectomy, and PSH was pathologically diagnosed following surgery. At the time of this writing (after 6 months of follow-up), the tumor had not recurred, no metastases had been detected, and close follow-up was ongoing. Conclusions Both bronchiectasis and PSH can cause hemoptysis. This case demonstrates that PSH should be included as a differential diagnosis of hemoptysis in women of advanced age. For patients with chronic hemoptysis, the diagnosis of PSH should be considered if the therapeutic effect of bronchiectasis is poor.

scholarly journals Rare Cardiac Myxoma with A Hard Texture: A Case Report

2020 ◽  
Author(s):  
Hongfei Xu ◽  
Yanjia Gu ◽  
Liang Ma ◽  
Yiming Ni ◽  
Weidong Li
Keyword(s):  
Elective Surgery ◽  
Cardiac Myxoma ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Cardiac Tumors ◽  
Rare Type ◽  
Primary Tumors ◽  
Case Presentation ◽  
Preoperative Examination

Abstract Background: Primary tumors of the heart are uncommon but not rare. Myxoma comprises 50% of all benign cardiac tumors in adults and 15% of such tumors in children. Cardiac myxoma is usually soft in texture and has a friable or villous surface, which tends to be associated with embolic events. It is also rare for myxoma to be full of calcium and metastatic bone deposits.Case presentation: We herein present a 58-year-old female patient with cardiac space-occupying lesion within the left atrium, and the lesion is lubricous and hard. Her only symptoms were hypertension, dizziness, and chest stuffiness. After surgical resection, we confirmed that the lesion was atrial myxoma by histopathology examination. The patient recovered uneventfully and was discharged. A 2-year follow-up exam showed no evidence of tumor recurrence.Conclusions: Cardiac myxoma is rare and has various clinical manifestations. It is usually friable and has an irregular surface, making embolic manifestations one of the most common complications. Consequently, immediate surgical excision is suggested upon diagnosis. In our case, the patient had a rare type of cardiac myxoma, which had a hard texture and lubricous surface. In our opinion, this case has a low risk of embolism. We prefer elective surgery rather than emergency surgery to perfect the preoperative examination for this kind of patient.

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