OBJECTIVE: To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR). METHODS: A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University on December 6,2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using "hypoparathyroidism""sensorineural deafness""renal dysplasia""HDR""Barakat" and"GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. RESULTS: A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously. CONCLUSION For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.
Humans ; Hypoparathyroidism/diagnosis* ; Female ; Infant, Newborn ; Hearing Loss, Sensorineural/diagnosis* ; GATA3 Transcription Factor/genetics* ; Nephrosis/genetics* ; Phenotype ; Exome Sequencing

Objective:To investigate the relationship between parathyroid hormone（PTH） level and permanent hypoparathyroidism（PHPP） on the first day after radical papillary thyroidectomy, and its predictive value. Methods:A total of 80 patients with papillary thyroid cancer who underwent total thyroid resection and central lymph node dissection were collected and analyzed from January 2021 to January 2022. According to whether PHPP occurred after surgery, the patients were divided into hypoparathyroidism group and normal parathyroid function group, and univariate and binary logistics regression were used to analyze the correlation between PTH and serum calcium levels and PHPP on the first day after surgery in two groups. The dynamic changes of PTH at different time points after operation were analyzed. The area under the receiver operating characteristic was used to evaluate the predictive power of PTH on the development of PHPP after surgery. Results:Among the 80 patients with papillary thyroid cancer, 10 cases developed PHPP, with an incidence rate of 12.5%. Binary logistics regression analysis showed that PTH on the first postoperative day（OR=14.534, 95%CI: 2.377-88.858, P=0.004） was an independent predictive risk factor for postoperative PHPP. Taking PTH=8.75 ng/L on the first postoperative day as the cut-off value, the AUC of the area under the curve was 0.874（95%CI: 0.790-0.958, P<0.001）, the sensitivity was 71.4%, the specificity was 100%, and the Yoden index was 0.714. Conclusion:PTH level on the first day after total thyroid papillary carcinoma surgery is closely related to PHPP, and is an independent predictor of PHPP.
Humans ; Calcium ; Hypoparathyroidism/surgery* ; Parathyroid Glands ; Parathyroid Hormone ; Postoperative Complications/surgery* ; Thyroid Cancer, Papillary/surgery* ; Thyroid Neoplasms/complications* ; Thyroidectomy

Objective:To investigate the value of retrograde thyroidectomy from top to bottom in the operation of retrosternal thyroid surgery. Methods:Retrospective analysis was performed on the cases of retrosternal goiter excised by our surgeons from January 2017 to June 2022,the technical points, feasibility and advantages of the operation were summarized. Results:A total of 15 cases of retrosternal goiter treated by retrograde thyroidectomy were collected, including 5 cases of type Ⅰ retrosternal goiter and 10 cases of type Ⅱ retrosternal goiter.The postoperative pathology was benign. The surgical time is 40-60 minutes for unilateral retrosternal goiter and 70-90 minutes for bilateral goiter. All patients were discharged normally within 7 days after operation, and no operative complications were observed such as bleeding, hoarseness or hypoparathyroidism. Conclusion:This surgical excision method of thyroid is suitable for the type Ⅰ and type Ⅱ retrosternal goiter surgery, which can avoid the difficulties in exposing and separating the the inferior thyroid behind the sternum in conventional surgical method, speed up the operation and reduced the difficulty of operation, and has certain promotion value in clinic.
Humans ; Thyroidectomy/methods* ; Retrospective Studies ; Goiter, Substernal/pathology* ; Hypoparathyroidism/surgery*

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome. METHODS: The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out. RESULTS: The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved. CONCLUSION The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.
DNA Copy Number Variations ; Hearing Loss, Sensorineural/genetics* ; Humans ; Hypoparathyroidism/genetics* ; Infant, Newborn ; Kidney/abnormalities* ; Male ; Syndrome ; Urogenital Abnormalities/genetics*

Repeated blood transfusions in transfusion dependent thalassemia (TDT) leads to iron overload-related endocrine complications. Hypoparathyroidism (HPT) with severe signs of hypocalcemia is a recognized complication among these patients. A 14-year-old thalassaemic boy, on regular transfusion and on anticonvulsant therapy with a presumptive diagnosis of epilepsy for the last 1 year, was admitted with high fever and severe muscle cramps with positive Trousseau’s sign. He was diagnosed as a case of primary HPT and magnesium deficiency on the basis of low serum calcium, high phosphate, normal alkaline phosphates, very low intact parathyroid hormone (iPTH), normal serum vitamin D and very low serum magnesium level. His calcium, magnesium and phosphate level normalised following treatment with intravenous magnesium and calcium. His iPTH improved but remained at low normal. He was discharged from hospital with oral calcium, calcitriol, and magnesium supplementation. The anticonvulsant (Phenobarbitone) was successfully withdrawn gradually over the next six months without any recurrence of seizure in the subsequent 3 years of follow up. Acquired HPT (apparently from hemosiderosis) is a common cause of hypocalcemia; and magnesium depletion further complicated the situation leading to severe hypocalcemia with recurrent episodes of convulsion. Magnesium replacement improved the parathyroid hormone (PTH) value proving its role in acquired HPT. Very high phosphate level on admission and poor PTH response with respect to the low serum calcium, indicates intrinsic parathyroid pathology. Metabolic abnormalities should always be evaluated in thalassaemic subject with seizure disorder and it appears that the initial convulsive episodes were due to hypocalcemia. Muscle pain, cramps or convulsion may occur from HPT and simultaneous magnesium deficiency in transfusion dependent thalassaemic subjects. Metabolic correction is more important than anticonvulsant medication. Calcium and magnesium should both be assessed routinely in transfusion dependent thalassemic patients.
Hemosiderosis ; Hypoparathyroidism ; Thalassemia

Fahr's disease (FD) is a rare neurologic disorder characterized by the symmetric and bilateral intracerebral calcification in a patient. We describe the case of a 65-year-old woman who presented with gait disturbance, abnormal mentality, and visual field defect. The result of a brain computerized tomography showed spontaneous intracranial hemorrhage in the right parieto-occipital area, and also showed the incidence of symmetric and bilateral intracerebral calcification. Moreover, laboratory studies indicated characteristic hypoparathyroidism. This brings us to understand that additionally, one of her sons also presented with similar intracerebral calcification, and was subsequently diagnosed with FD. Thus, her case was consistent with that of a patient experiencing FD. The patient had hypertension, which we now know might have caused the intracerebral hemorrhage. However, this patient's brain lesions were in uncommon locations for spontaneous intracerebral hemorrhage, and the lesions were noted as occurring away from the identified heavily calcified areas. Thus, it seemed that the massive calcification of cerebral vessels in the basal ganglia, the most common site of intracerebral hemorrhage, might have prevented a hypertensive intracerebral hemorrhage. Eventually, an intracerebral hemorrhage occurred in an uncommon location in the patient's brain.
Aged ; Basal Ganglia ; Brain ; Cerebral Hemorrhage ; Female ; Gait ; Humans ; Hypertension ; Hypoparathyroidism ; Incidence ; Intracranial Hemorrhage, Hypertensive ; Intracranial Hemorrhages ; Nervous System Diseases ; Visual Fields

BACKGROUND: The objective of the current study is to determine the role of serum parathyroid hormone (PTH) on hip fracture development by retrospectively analyzing the relationship between vitamin D and PTH levels and hip fracture prevalence. METHODS: Among 288 patients over 50 years of age, 113 patients with hip fracture and 111 controls without fracture were analyzed after excluding patients with conditions affecting bone metabolism. Bone mineral density and serum biochemical markers were measured, while demographic data were obtained. Patients were divided into 4 groups according to serum 25-hydroxy-vitamin D (25-[OH]D) and PTH levels: LowD+LowP (low 25[OH]D and PTH); LowD+HighP, (low 25[OH]D and high PTH); HighD+LowP (high 25[OH]D and low PTH); and HighD+HighP, patients with (high 25[OH]D and PTH). Measured values and percentages of patients with hip fracture in each group were then determined and compared. RESULTS: The number of patients included in the LowD+LowP, LowD+HighP, HighD+LowP, and HighD+HighP groups was 116, 17, 87, and 4, while the percentages of patients with hip fracture in the same groups were 60.3%, 88.2%, 27.6%, and 100%, respectively. The percentage of hip fracture was significantly lower in the LowD+LowP than the LowD+HighP group (P=0.049). CONCLUSIONS: Patients with low serum 25(OH)D and PTH levels showed lower hip fracture prevalence, indicating the potential protective role of low PTH levels on bone health in patients with vitamin D deficiency. Therefore, clinicians should pay more attention to the possibility of fractures in patients with vitamin D deficiency who present with high PTH levels.
Biomarkers ; Bone Density ; Hip Fractures ; Hip ; Humans ; Hypoparathyroidism ; Metabolism ; Parathyroid Hormone ; Prevalence ; Retrospective Studies ; Vitamin D Deficiency ; Vitamin D ; Vitamins

PURPOSE: Routine supplementation of high-dose calcium significantly decreased the risk of postoperative symptomatic hypocalcemia after thyroidectomy. However, there is an ongoing debate about whether the same results can be achieved with low-dose calcium supplementation. METHODS: Patients (n = 138) who underwent total thyroidectomy for thyroid cancer were 1:1 randomly assigned to receive oral supplements of 1,500 mg/day elemental calcium and 1,000 IU/day cholecalciferol for 2 weeks or no supplementation. Primary objective was to compare the incidence of symptomatic hypocalcemia for 3 days after total thyroidectomy. Secondary objective was to find the predictors for postoperative hypocalcemia in patients with thyroid cancer. RESULTS: Sixty-five patients in the calcium group and 69 patients in the control group were finally analyzed. The incidence of symptomatic hypocalcemia showed no difference between the calcium and control group (32.3% vs. 21.7%, P = 0.168). The total dosage of intravenous calcium (593.4 ± 267.1 mg vs. 731.6 ± 622.7 mg, P = 0.430) administered to patients with symptomatic hypocalcemia was also comparable between groups. In a multivariate analysis, parathyroid hormone level of 13 pg/mL at postoperative day 1 was only predictive for symptomatic hypocalcemia, and its incidence was 20.9 times (95% confidence interval, 6.8–64.5) higher in patients with parathyroid hormone <13 pg/mL. Other factors did not predict the development of hypocalcemia, including clinicopathological features and routine supplementation of low-dose calcium. CONCLUSION: Routine low-dose calcium supplementation did not reduce the risk of postoperative hypocalcemia. Patients who may benefit from calcium supplementation should be carefully selected.
Calcium ; Cholecalciferol ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Incidence ; Multivariate Analysis ; Parathyroid Hormone ; Prospective Studies ; Thyroid Neoplasms ; Thyroidectomy

Dioscorea tokoro has long been used in Korean traditional medicine as a pain killer and anti-inflammatory agent. A 53-year-old male who consumed water that had been boiled with raw tubers of D. tokoro as tea presented with numbness and spasm of both hands and feet. Laboratory results showed hypocalcemia, hypoparathyroidism, and vitamin D insufficiency. During his hospital stay, colitis, acute kidney injury, and toxic encephalopathy developed. The patient received calcium gluconate intravenous infusion and oral calcium carbonate with alfacalcidol. His symptoms improved gradually, but hypocalcemia persisted despite the calcium supplementation. We suggest that ingestion of inappropriately prepared D. tokoro can cause symptomatic hypocalcemia in patients with unbalanced calcium homeostasis.
Acute Kidney Injury ; Calcium ; Calcium Carbonate ; Calcium Gluconate ; Colitis ; Dioscorea ; Eating ; Foot ; Hand ; Homeostasis ; Humans ; Hypesthesia ; Hypocalcemia ; Hypoparathyroidism ; Infusions, Intravenous ; Length of Stay ; Male ; Medicine, Korean Traditional ; Middle Aged ; Neurotoxicity Syndromes ; Spasm ; Tea ; Vitamin D ; Water

To investigate the risk factors for hypoparathyroidism after thyroidectomy.
 Methods: Clinical data of 492 patients, who underwent thyroidectomy from April 2015 to December 2016 from Xiangya Hospital of Central South University, were studied retrospectively. Chi-square test and multivariable logistic regression were performed to find the risk factors for postoperative hypoparathyroidism.
 Results: The incidence of postoperative hypoparathyroidism was 43.5%, and the incidence of temporary and permanent hypoparathyroidism was 43.1% and 0.4%, respectively. Univariate analysis showed that tumor pathology, thyroidectomy types, the extent of lymph node dissection, application of carbon nanoparticles, and merged Hashimoto's thyroiditis were risk factors for postoperative hypoparathyroidism (all P<0.01). Logistic regression analysis showed that: thyroidectomy types (OR=0.149, 95% CI 0.078 to 0.28), the extent lymph node dissection (OR=0.779, 95% CI 0.617 to 0.983) and application of carbon nanoparticles (OR=1.729, 
95% CI 1.067 to 2.801) were independent risk factors for postoperative hypoparathyroidism (all P<0.05).
 Conclusion: Hypoparathyroidism is a common complication after thyroidectomy. The incidence of postoperative hypoparathyroidism is significantly increased in patients underwent total thyroidectomy and cervical lymph node dissection. Application of carbon nanoparticles intraoperatively can reduce the incidence of postoperative hypoparathyroidism.
Humans ; Hypoparathyroidism ; surgery ; Postoperative Complications ; Retrospective Studies ; Risk Factors ; Thyroid Neoplasms ; Thyroidectomy