BACKGROUND Hypoparathyroidism(HP)is a rare endocrine disorder,while situs inversus totalis(SIT)is a rare condition in which the internal organs are positioned in a mirrored pattern compared to their usual positions.Th...BACKGROUND Hypoparathyroidism(HP)is a rare endocrine disorder,while situs inversus totalis(SIT)is a rare condition in which the internal organs are positioned in a mirrored pattern compared to their usual positions.This case illustrates some potential shared mechanisms between HP and SIT,highlighting the importance of accurate identification and prompt first emergency,offering insights for future research.CASE SUMMARY This report discusses a case of a middle-aged patient with adolescent-onset HP with concurrent SIT.The patient experienced recurrent episodes of increased neuromuscular excitability(manifesting as spasms in the hands and feet and laryngospasms)and even periods of unconsciousness.Initially,these symptoms led to a misdiagnosis of epilepsy.Nevertheless,upon thorough examination and treatment in the general medicine ward,the correct diagnosis was established.Corresponding treatment resulted in improved management of the patient’s symptoms.CONCLUSION Co-occurrence of HP and SIT may be associated with genetic mutations,chromosomal anomalies,or hereditary factors,as may other similar conditions.展开更多
BACKGROUND Primary hypoparathyroidism(HPT)is rarely seen in the clinic,and it can be combined with rhabdomyolysis.There are few reports about this phenomenon.Therefore,it is significant to explore the etiology that is...BACKGROUND Primary hypoparathyroidism(HPT)is rarely seen in the clinic,and it can be combined with rhabdomyolysis.There are few reports about this phenomenon.Therefore,it is significant to explore the etiology that is conducive to early diagnosis,timely treatment,and preventing the recurrence.CASE SUMMARY A 63-year-old man was admitted to our hospital with a severe upper respiratory tract infection and progressing decreased myodynamia of the lower limbs.Blood tests showed creatine kinase>32000 U/L,creatinine 207.8μmol/L,calcium 1.28 mmol/L,myoglobin 558.7 ng/mL,and parathyroid hormone 0 pg/mL.He was diagnosed with primary HPT with rhabdomyolysis,and severe upper respiratory tract infection was considered to be the initial trigger.He responded well to supplementation of intravenous calcium gluconate and oral calcium as well as bedside hemodialysis,fluid hydration,infection control,protecting the liver,etc.Creatine kinase,myoglobin,and serum calcium returned to normal,and muscle strength improved significantly.Symptoms improved after symptomatic treatment.CONCLUSION Severe infection should be prevented,which is the key cause of rhabdomyolysis in patients with HPT.展开更多
BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestati...BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestation,diagnosis,and treatment.CASE SUMMARY A 62-year-old man experienced repeated twitching of both hands in recent 10 years.On July 28,2017,the patient was admitted to our hospital due to slow response and speech difficulties.On medical examinations,he had a positive Chvostek sign,while no Albright’s hereditary osteodystrophy signs or history of neck surgery or radiation,and his family members had no similar medical history.Laboratory examinations revealed hypocalcemia,hyperphosphatemia,and low parathyroid hormone(PTH)levels.Computed tomography revealed basal ganglia calcification.Based on these investigations,a diagnosis of Fahr’s syndrome due to hypoparathyroidism was suggested.After receiving intravenous calcium gluconate to relieve symptoms,the patient continued to take oral calcium carbonate and calcitriol for treatment.CONCLUSION The possibility of hypoparathyroidism should be considered in patients with chronic hypocalcemia,recurrent tetany,and even neuropsychiatric symptoms.Hypoparathyroidism is a common cause of basal ganglia calcification.Therefore,it is recommended that blood calcium,phosphorus,and PTH levels should be measured in all individuals with basal ganglia calcification to exclude hypoparathyroidism.展开更多
This study observed the changes of BMD, serum calcium, bone Gla protein and calcitonin of patients with hypoparathyroidism controlled by age and sex matched healthy persons. It was found that BMD was 10% greater in hy...This study observed the changes of BMD, serum calcium, bone Gla protein and calcitonin of patients with hypoparathyroidism controlled by age and sex matched healthy persons. It was found that BMD was 10% greater in hypoparathyroidism patients than in controls, but the difference was not statistically significant. Serum BGP was significantly lower in hypoparathyroidism patients than in controls (P<0. 02). We postulate that PTH deficiency and long term treatment with calcium and vitamin D for hypoparathyroidism appear to be main mediator of this increased bone mass,and that hone mass is not affected by endogenous calcitonin.展开更多
HYPOPARATHYROIDISM is characterized by hypocalcemia, hyperphosphatemia and low or inappropriately normal levels of parathyroid hormone （PTH）. PTH is a key calcium regulatinghormone essential for calcium homeostasis,...HYPOPARATHYROIDISM is characterized by hypocalcemia, hyperphosphatemia and low or inappropriately normal levels of parathyroid hormone （PTH）. PTH is a key calcium regulatinghormone essential for calcium homeostasis, vitamin D-dependent calcium absorption, renal calcium reabsorption and renal phosphate clearance. Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abnormalities, destruction or infiltrative disorders of the parathyroid glands.展开更多
Background Parathyroid hormone deficiency or resistance may cause hypocalcemia with related symptoms and signs. Lifelong treatment of calcium combined with vitamin D or its metabolites is always necessary for these pa...Background Parathyroid hormone deficiency or resistance may cause hypocalcemia with related symptoms and signs. Lifelong treatment of calcium combined with vitamin D or its metabolites is always necessary for these patients. Here we reported a prospective and open-label trial to investigate the efficacy and safety of domestic-made calcitriol in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism. Methods Twenty-four patients with confirmed hypoparathyroidism or pseudohypoparathyroidism aged （36.5±11.0） years old were studied. Among them, 16 patients had idiopathic hypoparathyroidism, 2 had pseudohypoparathyroidism and 6 had hypoparathyroidism secondary to cervical surgery. Serum calcium levels were lower than 1.88 mmol/L. Oral calcitriol was administered twice or three times with elemental calcium 1.2 g per day. All patients were followed every 4 weeks throughout the 12-week period. Dose adjustments of calcitriol were based on serum and urinary calcium levels and symptoms of hypocalcemia. Results Twenty patients were included by the end of this study. Muscular weakness, cramps, extremity paresthesia, Chovestek＇s sign and Trousseau＇s sign were relieved in 76.9%, 100%, 94.4%, 93.3% and 78.9% of patients, respectively. Serum calcium, plasma ionized calcium and serum phosphorus levels were （1.54±0.25） mmol/L, （0.64±0.10） mmol/L and （2.00±0,46） mmol/L at baseline, and reached （2.20±0.20） mmol/L, （0.95±0.06） mmol/L and （1.68±0.25） mmol/L （P 〈0.01） at the 12th week of treatment, respectively. Eighty percent of patients were assessed as effective and 20% as partly effective. Three, four and eight patients had hypercalciuria at the 4th, 8th and 12th week of treatment, respectively, which were reduced by thiazide diuretics. The final dose of calcitriol was （1.09±0.50） ug/d. Conclusions Calcitriol combined with calcium can be used in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism effectively and safely. Serum and urinary calcium levels should be monitored during the course of the therapy.展开更多
Hypoparathyroidism is one of the main complications after total thyroidectomy,severely affecting patients’quality of life.How to effectively protect parathyroid function after surgery and reduce the incidence of hypo...Hypoparathyroidism is one of the main complications after total thyroidectomy,severely affecting patients’quality of life.How to effectively protect parathyroid function after surgery and reduce the incidence of hypoparathyroidism has always been a key research area in thyroid surgery.Therefore,precise localization of parathyroid glands during surgery,effective imaging,and accurate surgical resection have become hot topics of concern for thyroid surgeons.In response to this clinical phenomenon,this study compared several different imaging methods for parathyroid surgery,including nanocarbon,indocyanine green,near-infrared imaging techniques,and technetium-99m methoxyisobutylisonitrile combined with gamma probe imaging technology.The advantages and disadvantages of each method were analyzed,providing scientific recommendations for future parathyroid imaging.In recent years,some related basic and clinical research has also been conducted in thyroid surgery.This article reviewed relevant literature and provided an overview of the practical application progress of various imaging techniques in parathyroid surgery.展开更多
目的:当前,临床针对甲状腺癌的手术方式有全切、次全切、全切+颈淋巴结清扫等,不同的手术方式对甲状腺旁腺的损伤不同。越来越多的临床医生已经关注甲状腺旁保护对患者的意义。本研究旨在探讨甲状腺癌全切除术导致甲状旁腺损伤对患者骨...目的:当前,临床针对甲状腺癌的手术方式有全切、次全切、全切+颈淋巴结清扫等,不同的手术方式对甲状腺旁腺的损伤不同。越来越多的临床医生已经关注甲状腺旁保护对患者的意义。本研究旨在探讨甲状腺癌全切除术导致甲状旁腺损伤对患者骨密度及骨代谢的影响。方法:回顾性分析2017年3月至2019年6月南京医科大学第一附属医院收治的167例行甲状腺癌全切除术的患者,检测其甲状旁腺激素(parathyroid hormone,PTH)等指标评估甲状旁腺损伤情况。将甲状旁腺损伤患者纳入研究组,共87例;未损伤者纳入对照组,共80例。在术前术后均检测PTH、游离三碘甲腺原氨酸(free triiodothyronine,FT3)、游离四碘甲腺原氨酸(free tetraiodothyronine,FT4)、促甲状腺激素(thyroid stimulating hormone,TSH)、血钙、血磷及血镁水平,同时检测骨密度及骨代谢指标I型胶原氨基端延长肽(N-terminal propeptide of type 1 precollagen,P1NP)、I型胶原羧基末端肽(β-C-terminal telopeptide of typeⅠcollagen,CTX)水平。结果:研究组患者术后PTH和骨密度均低于对照组,骨代谢指标P1NP、CTX均低于对照组,血钙水平也低于对照组,但血磷水平高于对照组,差异均具有统计学意义(均P<0.05)。结论:甲状腺癌全切除术后并发甲状旁腺损伤的患者血清PTH水平显著降低,骨密度及骨代谢指标水平均下降,钙磷紊乱致骨钙流失速度加快,提示患者甲状旁腺损伤可能是骨质疏松的诱发因素。展开更多
INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia （HDR） syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding pr...INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia （HDR） syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 （GATA3） gene located on the 10pl 5 chromosome.展开更多
Background： Hypoparathyroidism-deafness-renal dysplasia （HDR） syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 （GATA3） gene mutations, and hearing loss i...Background： Hypoparathyroidism-deafness-renal dysplasia （HDR） syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 （GATA3） gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese t;amily with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. Methods： Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was pertbrmed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial H DR syndrome cases analyzed were provided. Results： In Chinese family 712 l, a heterozygous nonsense mutation c.826C〉T （p.R276＊） was identified in GA TA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases （30%） and two thirds of them were found to carry premature stop mutations. Conclusions： This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.展开更多
基金Supported by Zunyi Science and Technology Plan Program No.HZ(2022)48Zunyi Science and Technology Plan Program,No.HZ(2023)60.
文摘BACKGROUND Hypoparathyroidism(HP)is a rare endocrine disorder,while situs inversus totalis(SIT)is a rare condition in which the internal organs are positioned in a mirrored pattern compared to their usual positions.This case illustrates some potential shared mechanisms between HP and SIT,highlighting the importance of accurate identification and prompt first emergency,offering insights for future research.CASE SUMMARY This report discusses a case of a middle-aged patient with adolescent-onset HP with concurrent SIT.The patient experienced recurrent episodes of increased neuromuscular excitability(manifesting as spasms in the hands and feet and laryngospasms)and even periods of unconsciousness.Initially,these symptoms led to a misdiagnosis of epilepsy.Nevertheless,upon thorough examination and treatment in the general medicine ward,the correct diagnosis was established.Corresponding treatment resulted in improved management of the patient’s symptoms.CONCLUSION Co-occurrence of HP and SIT may be associated with genetic mutations,chromosomal anomalies,or hereditary factors,as may other similar conditions.
文摘BACKGROUND Primary hypoparathyroidism(HPT)is rarely seen in the clinic,and it can be combined with rhabdomyolysis.There are few reports about this phenomenon.Therefore,it is significant to explore the etiology that is conducive to early diagnosis,timely treatment,and preventing the recurrence.CASE SUMMARY A 63-year-old man was admitted to our hospital with a severe upper respiratory tract infection and progressing decreased myodynamia of the lower limbs.Blood tests showed creatine kinase>32000 U/L,creatinine 207.8μmol/L,calcium 1.28 mmol/L,myoglobin 558.7 ng/mL,and parathyroid hormone 0 pg/mL.He was diagnosed with primary HPT with rhabdomyolysis,and severe upper respiratory tract infection was considered to be the initial trigger.He responded well to supplementation of intravenous calcium gluconate and oral calcium as well as bedside hemodialysis,fluid hydration,infection control,protecting the liver,etc.Creatine kinase,myoglobin,and serum calcium returned to normal,and muscle strength improved significantly.Symptoms improved after symptomatic treatment.CONCLUSION Severe infection should be prevented,which is the key cause of rhabdomyolysis in patients with HPT.
基金Supported by Endocrine Clinical Medical Center of Yunnan Province,No.ZX2019-02-02Endocrine Clinical Medical Center of Yunnan Province,No.ZX2019-02-02+5 种基金Natural Science Foundation of China(No.81760734No.31660313)Natural Science Foundation of Yunnan Province(No.2017FA048No.2017FE467)the fund of Diabetic Innovation Team(No.2019HC002)the fund of medical leader in Yunnan Province(No.L-201609)
文摘BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestation,diagnosis,and treatment.CASE SUMMARY A 62-year-old man experienced repeated twitching of both hands in recent 10 years.On July 28,2017,the patient was admitted to our hospital due to slow response and speech difficulties.On medical examinations,he had a positive Chvostek sign,while no Albright’s hereditary osteodystrophy signs or history of neck surgery or radiation,and his family members had no similar medical history.Laboratory examinations revealed hypocalcemia,hyperphosphatemia,and low parathyroid hormone(PTH)levels.Computed tomography revealed basal ganglia calcification.Based on these investigations,a diagnosis of Fahr’s syndrome due to hypoparathyroidism was suggested.After receiving intravenous calcium gluconate to relieve symptoms,the patient continued to take oral calcium carbonate and calcitriol for treatment.CONCLUSION The possibility of hypoparathyroidism should be considered in patients with chronic hypocalcemia,recurrent tetany,and even neuropsychiatric symptoms.Hypoparathyroidism is a common cause of basal ganglia calcification.Therefore,it is recommended that blood calcium,phosphorus,and PTH levels should be measured in all individuals with basal ganglia calcification to exclude hypoparathyroidism.
文摘This study observed the changes of BMD, serum calcium, bone Gla protein and calcitonin of patients with hypoparathyroidism controlled by age and sex matched healthy persons. It was found that BMD was 10% greater in hypoparathyroidism patients than in controls, but the difference was not statistically significant. Serum BGP was significantly lower in hypoparathyroidism patients than in controls (P<0. 02). We postulate that PTH deficiency and long term treatment with calcium and vitamin D for hypoparathyroidism appear to be main mediator of this increased bone mass,and that hone mass is not affected by endogenous calcitonin.
文摘HYPOPARATHYROIDISM is characterized by hypocalcemia, hyperphosphatemia and low or inappropriately normal levels of parathyroid hormone （PTH）. PTH is a key calcium regulatinghormone essential for calcium homeostasis, vitamin D-dependent calcium absorption, renal calcium reabsorption and renal phosphate clearance. Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abnormalities, destruction or infiltrative disorders of the parathyroid glands.
文摘Background Parathyroid hormone deficiency or resistance may cause hypocalcemia with related symptoms and signs. Lifelong treatment of calcium combined with vitamin D or its metabolites is always necessary for these patients. Here we reported a prospective and open-label trial to investigate the efficacy and safety of domestic-made calcitriol in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism. Methods Twenty-four patients with confirmed hypoparathyroidism or pseudohypoparathyroidism aged （36.5±11.0） years old were studied. Among them, 16 patients had idiopathic hypoparathyroidism, 2 had pseudohypoparathyroidism and 6 had hypoparathyroidism secondary to cervical surgery. Serum calcium levels were lower than 1.88 mmol/L. Oral calcitriol was administered twice or three times with elemental calcium 1.2 g per day. All patients were followed every 4 weeks throughout the 12-week period. Dose adjustments of calcitriol were based on serum and urinary calcium levels and symptoms of hypocalcemia. Results Twenty patients were included by the end of this study. Muscular weakness, cramps, extremity paresthesia, Chovestek＇s sign and Trousseau＇s sign were relieved in 76.9%, 100%, 94.4%, 93.3% and 78.9% of patients, respectively. Serum calcium, plasma ionized calcium and serum phosphorus levels were （1.54±0.25） mmol/L, （0.64±0.10） mmol/L and （2.00±0,46） mmol/L at baseline, and reached （2.20±0.20） mmol/L, （0.95±0.06） mmol/L and （1.68±0.25） mmol/L （P 〈0.01） at the 12th week of treatment, respectively. Eighty percent of patients were assessed as effective and 20% as partly effective. Three, four and eight patients had hypercalciuria at the 4th, 8th and 12th week of treatment, respectively, which were reduced by thiazide diuretics. The final dose of calcitriol was （1.09±0.50） ug/d. Conclusions Calcitriol combined with calcium can be used in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism effectively and safely. Serum and urinary calcium levels should be monitored during the course of the therapy.
基金Supported by The 2024 Hospital Research Funding,No.KYQ2024008.
文摘Hypoparathyroidism is one of the main complications after total thyroidectomy,severely affecting patients’quality of life.How to effectively protect parathyroid function after surgery and reduce the incidence of hypoparathyroidism has always been a key research area in thyroid surgery.Therefore,precise localization of parathyroid glands during surgery,effective imaging,and accurate surgical resection have become hot topics of concern for thyroid surgeons.In response to this clinical phenomenon,this study compared several different imaging methods for parathyroid surgery,including nanocarbon,indocyanine green,near-infrared imaging techniques,and technetium-99m methoxyisobutylisonitrile combined with gamma probe imaging technology.The advantages and disadvantages of each method were analyzed,providing scientific recommendations for future parathyroid imaging.In recent years,some related basic and clinical research has also been conducted in thyroid surgery.This article reviewed relevant literature and provided an overview of the practical application progress of various imaging techniques in parathyroid surgery.
文摘目的:当前,临床针对甲状腺癌的手术方式有全切、次全切、全切+颈淋巴结清扫等,不同的手术方式对甲状腺旁腺的损伤不同。越来越多的临床医生已经关注甲状腺旁保护对患者的意义。本研究旨在探讨甲状腺癌全切除术导致甲状旁腺损伤对患者骨密度及骨代谢的影响。方法:回顾性分析2017年3月至2019年6月南京医科大学第一附属医院收治的167例行甲状腺癌全切除术的患者,检测其甲状旁腺激素(parathyroid hormone,PTH)等指标评估甲状旁腺损伤情况。将甲状旁腺损伤患者纳入研究组,共87例;未损伤者纳入对照组,共80例。在术前术后均检测PTH、游离三碘甲腺原氨酸(free triiodothyronine,FT3)、游离四碘甲腺原氨酸(free tetraiodothyronine,FT4)、促甲状腺激素(thyroid stimulating hormone,TSH)、血钙、血磷及血镁水平,同时检测骨密度及骨代谢指标I型胶原氨基端延长肽(N-terminal propeptide of type 1 precollagen,P1NP)、I型胶原羧基末端肽(β-C-terminal telopeptide of typeⅠcollagen,CTX)水平。结果:研究组患者术后PTH和骨密度均低于对照组,骨代谢指标P1NP、CTX均低于对照组,血钙水平也低于对照组,但血磷水平高于对照组,差异均具有统计学意义(均P<0.05)。结论:甲状腺癌全切除术后并发甲状旁腺损伤的患者血清PTH水平显著降低,骨密度及骨代谢指标水平均下降,钙磷紊乱致骨钙流失速度加快,提示患者甲状旁腺损伤可能是骨质疏松的诱发因素。
文摘INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia （HDR） syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 （GATA3） gene located on the 10pl 5 chromosome.
文摘Background： Hypoparathyroidism-deafness-renal dysplasia （HDR） syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 （GATA3） gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese t;amily with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. Methods： Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was pertbrmed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial H DR syndrome cases analyzed were provided. Results： In Chinese family 712 l, a heterozygous nonsense mutation c.826C〉T （p.R276＊） was identified in GA TA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases （30%） and two thirds of them were found to carry premature stop mutations. Conclusions： This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.
