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Case Reports in Women's Health Mar 2024Hypercalcemia in pregnancy is rare and can pose a great diagnostic challenge due to its asymptomatic presentation. It is associated with maternal complications such as...
Hypercalcemia in pregnancy is rare and can pose a great diagnostic challenge due to its asymptomatic presentation. It is associated with maternal complications such as urolithiasis, pancreatitis, renal insufficiency and preeclampsia, fetal complications such as growth restriction and intrauterine fetal demise, and neonatal complications such as neonatal hypocalcemia, tetany and hypoparathyroidism. Prompt diagnosis and treatment of the underlying cause of hypercalcemia is important. Two cases of hypercalcemia in pregnancy were encountered over 12 months. Both presented asymptomatically in the first trimester and were associated with hyperparathyroidism and hypertensive disease in current and previous gestations. Genetic testing ruled out familial hypocalciuric hypercalcemia, and both women required surgical management in the second trimester for control of hypercalcemia. The literature on the diagnosis and management of hypercalcemia in pregnancy is reviewed, and the challenges and pitfalls are discussed. Hypercalcemia in pregnancy requires a high index of suspicion for early diagnosis, and young women with unexplained hypertension in early pregnancy should be investigated for secondary causes, including hypercalcemia and primary hyperparathyroidism. Management of hypercalcemia secondary to primary hyperparathyroidism requires multidisciplinary team management, and surgery should be considered if the patient has not responded to conservative measures, ideally in the second trimester.
PubMed: 38356696
DOI: 10.1016/j.crwh.2024.e00586 -
JBMR Plus Jul 2023Recombinant human parathyroid hormone (1-84), rhPTH(1-84), is an approved adjunctive treatment to oral calcium and active vitamin D for adult patients with...
Recombinant human parathyroid hormone (1-84), rhPTH(1-84), is an approved adjunctive treatment to oral calcium and active vitamin D for adult patients with hypoparathyroidism; however, there is limited information on the effect of twice daily (BID) dosing of rhPTH(1-84). This was a phase I, open-label, randomized, crossover, multicenter study conducted in adult patients with chronic hypoparathyroidism. The primary objective was to assess the pharmacokinetic profile and pharmacodynamic effects of 1 day of treatment with rhPTH(1-84) administered subcutaneously at 25 μg BID, 50 μg BID, and 100 μg once daily (QD) with or without supplemental oral calcium. Safety and tolerability were evaluated as secondary objectives. In total, 33 patients with chronic hypoparathyroidism completed the study. Treatment with rhPTH(1-84), both BID and QD, over the short-term maintained serum calcium, lowered serum phosphorus, decreased urinary calcium excretion, and increased urinary phosphorus excretion. The decrease in urinary calcium excretion was numerically greater for BID than QD. Generally, baseline-adjusted pharmacokinetic parameters including area under the curve and maximum observed concentration increased with increasing rhPTH(1-84) dose, although this effect was not dose proportional. No new safety findings were observed. Our study revealed no differences thought to be clinically meaningful in pharmacokinetic or pharmacodynamic parameters with BID versus QD rhPTH(1-84) dosing. Future long-term studies are warranted to further elucidate the effects of alternative dosing strategies. © 2023 Takeda Development Center Americas, Inc and The Authors. published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
PubMed: 37457880
DOI: 10.1002/jbm4.10758 -
European Journal of Psychotraumatology 202422q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The...
22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the evolving phenotype (both medical and developmental/behavioural) across the lifespan can strongly impact the mental health of patients as well as their caregivers. Like caregivers of children with other chronic diseases, caregivers of children with 22q11DS may experience an increased risk of traumatisation and mental health symptoms. The study's primary objective was to assess the frequency of traumatic experiences and mental health symptoms among mothers of children with 22q11DS. The secondary objective was to compare their traumatic experiences to those of mothers of children with other neurodevelopmental disorders (NDDs). A total of 71 mothers of children diagnosed with 22q11DS completed an online survey about their mental health symptoms and traumatic experiences. Descriptive statistics were used to summarise the prevalence of their mental health symptoms and traumatic experiences. Logistic regression models were run to compare the traumatic experiences of mothers of children with 22q11DS to those of 335 mothers of children with other neurodevelopmental disorders (NDDs). Many mothers of children with 22q11DS experienced clinically significant mental health symptoms, including depression (39%), anxiety (25%), and post-traumatic stress disorder (PTSD) symptoms (30%). The types of traumatic events experienced by mothers of children with 22q11DS differed from those of mothers of children with other NDDs as they were more likely to observe their child undergoing a medical procedure, a life-threatening surgery, or have been with their child in the intensive care unit. 22q11DS caregivers are likely to require mental health support and trauma-informed care, tailored to the specific needs of this population as they experience different kinds of traumatic events compared to caregivers of children with other NDDS.
Topics: Humans; Female; Mothers; Adult; Child; Male; Surveys and Questionnaires; Mental Health; Stress Disorders, Post-Traumatic; 22q11 Deletion Syndrome; Adolescent; Neurodevelopmental Disorders; Middle Aged; Caregivers
PubMed: 38780146
DOI: 10.1080/20008066.2024.2353532 -
Journal of Clinical Medicine May 2024: Thyroidectomy constitutes an important portion of endocrine surgery procedures and is associated with various complications such as bleeding, recurrent laryngeal nerve...
: Thyroidectomy constitutes an important portion of endocrine surgery procedures and is associated with various complications such as bleeding, recurrent laryngeal nerve injury, and postoperative hypoparathyroidsm. Effective parathyroid preservation during thyroid surgery is crucial for patient well-being, with current strategies heavily reliant on surgeon experience. Among various methods, Indocyanine Green Angiography (ICGA) offers a promising method for intraoperative assessment of parathyroid gland perfusion. : In a retrospective study, patients undergoing bilateral thyroidectomy from January 2021 to January 2023 were analyzed, excluding those with previous thyroidectomy, parathyroid disease, or chronic kidney disease. The study compared a control group ( = 175) with an ICGA group ( = 120), using propensity score matching for statistical analysis. Matched cohorts included 120 patients in each group. The primary outcome of this study was identified as temporary postoperative hypoparathyroidism, with secondary outcomes including the rate of parathyroid reimplantation and the incidence of permanent postoperative hypoparathyroidism. : The ICGA group showed significantly more parathyroid autotransplantations ( < 0.01). While not statistically significant, the control group had a higher incidence of temporary postoperative hypoparathyroidism ( < 0.09). Rates of hypocalcemia on postoperative day 1 and permanent hypocalcemia were similar. Subgroup analysis indicated more postoperative day 1 hypoparathyroidism in the control group during central neck dissections ( < 0.049). : Intraoperative ICGA use correlated with higher parathyroid autotransplantation and suggested reduced postoperative hypoparathyroidism. Changes in fluorescence intensity following a second ICG injection may provide an objective method to assess parathyroid perfusion. Further large-scale studies are needed to fully understand ICGA's impact on parathyroid preservation.
PubMed: 38892750
DOI: 10.3390/jcm13113038 -
Journal of Clinical Medicine Apr 2024Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is... (Review)
Review
Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions.
PubMed: 38673639
DOI: 10.3390/jcm13082368 -
Journal of Clinical Research in... Dec 2023Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic...
Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator () gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenocortical insufficiency. A 3.3-year-old girl was presented with a carpopedal spasm to the pediatric emergency clinic. She had a history of recurrent keratitis, and chronic candidiasis as urinary tract infections and oral thrashes. Hypoparathyroidism (HPT) was diagnosed based on low serum concentrations of calcium and parathyroid hormone and elevated serum concentrations of phosphate, and treatment with calcium and calcitriol supplementation was started. Genetic testing revealed homozygosity for nonsense c.769C>T (p.R257X) mutation in exon 6 in the gene which was reported previously. At the age of 5.6 years, she was presented with an adrenal crisis, and treatment with hydrocortisone and fludrocortisone was started. The reported case highlights that unexplained chronic keratitis in children may be the first and most severe component of this syndrome. The classic triad of APS-1 may also appear in the first decade of life.
PubMed: 38084036
DOI: 10.4274/jcrpe.galenos.2023.2023-9-17 -
Langenbeck's Archives of Surgery Feb 2024To assess the impact of fine-needle aspiration cytology (FNAC) in the extent of surgery in patients with thyroid cancer (TC) and the associated surgical morbidity in...
PURPOSE
To assess the impact of fine-needle aspiration cytology (FNAC) in the extent of surgery in patients with thyroid cancer (TC) and the associated surgical morbidity in primary and completion setting.
METHODS
A Swedish nationwide cohort of patients having surgery for TC (n = 2519) from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal surgery between 2004 and 2013 was obtained. Data was validated through scrutinizing FNAC and histology reports.
RESULTS
Among the 2519 cases operated for TC, the diagnosis was substantiated and validated through the histology report in 2332 cases (92.6%). Among these, 1679 patients (72%) were female, and the median age at TC diagnosis was 52.3 years (range 18-94.6). Less than total thyroidectomy (LTT) was undertaken in 944 whereas total thyroidectomy (TT) in 1388 cases. The intermediate FNAC categories of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/ FLUS), as well as suspicion for follicular neoplasm (SFN) lesions were more often encountered in LTT (n = 314, 33.3%) than TT (n = 63, 4.6%), whereas FNACs suspicion for malignancy and/or malignancy were overrepresented in TT (n = 963, 69.4%). Completion thyroidectomies were undertaken in 553 patients out of 944 that initially had LTT. In 201 cases with cancer lesions > 1 cm, other than FTC (Follicular TC)/ HTC (Hürthle cell TC) subjected to primary LTT, inadequate procedures were undertaken in 81 due to absent, Bethesda I or II FNAC categories, preoperatively. Complications at completion of surgery in this particular setting were 0.5% for RLN palsy (n = 1) and 1% (n = 2) for hypoparathyroidism 6 months postoperatively. The overall postoperative complication rate was higher in primary TT vs. LTT for RLN palsy (4.8% [n = 67] vs. 2.4% [n = 23]; p = 0.003) and permanent hypoparathyroidism (6.8% [n = 95] vs. 0.8% [n = 8]; p < 0.0001).
CONCLUSIONS
FNAC results appear to affect surgical planning in TC as intermediate FNAC categories lead more often to LTT. Overall, inadequate procedures necessitating completion surgery are encountered in up to 15% of TC patients subjected to LTT due to absent, inconclusive, or misleading FNAC, preoperatively. However, completion of thyroidectomy in this setting did not yield significant surgical morbidity. Primary LTT is a safer primary approach compared to TT in respect of RLN palsy and permanent hypoparathyroidism complication rates; therefore, primary TT should probably be reserved for lesions > 1 cm or even larger with suspicion for malignancy or malignant FNAC.
Topics: Humans; Female; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Male; Thyroidectomy; Biopsy, Fine-Needle; Retrospective Studies; Thyroid Neoplasms; Adenocarcinoma, Follicular; Morbidity; Paralysis; Hypoparathyroidism; Thyroid Nodule
PubMed: 38374242
DOI: 10.1007/s00423-024-03258-3 -
AME Case Reports 2024Coronavirus disease 2019 (COVID-19) infection has been associated with various endocrinopathies. Few literatures have reported cases of transient hypoparathyroidism in...
BACKGROUND
Coronavirus disease 2019 (COVID-19) infection has been associated with various endocrinopathies. Few literatures have reported cases of transient hypoparathyroidism in acute COVID-19 infections, or even exacerbation of hypocalcaemia in previously known hypoparathyroidism patients. The mechanism of hypocalcaemia in COVID-19 infection remains unclear.
CASE DESCRIPTION
Our patient is a young gentleman who was incidentally diagnosed with superior mesenteric artery (SMA) syndrome and symptomatic primary hypoparathyroidism while presenting with an acute COVID-19 infection. He initially presented with high-grade fever, followed by multiple episodes of vomiting and abdominal pain and subsequently hypocalcaemic symptoms such as tonic-clonic seizures and carpopedal spasms. A computed tomographic scan of his abdomen revealed a SMA syndrome while his blood investigation showed a parathyroid hormone (PTH)-dependent hypocalcaemia. His SMA syndrome was a result of severe malnourishment and improved with refeeding, but his primary hypoparathyroidism persisted despite having recovered for 6 months from the initial COVID-19 infection. There was no evidence to suggest a congenital cause of hypoparathyroidism.
CONCLUSIONS
To the best of our knowledge this is the first case report that describe this unique case of persistent primary hypoparathyroidism related to COVID-19 infection. Parathyroid gland involvement in a COVID-19 infection is rare but not impossible. Further studies are needed to determine the mechanism and extent of damage of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) to the parathyroid glands.
PubMed: 38711895
DOI: 10.21037/acr-23-106 -
Scandinavian Journal of Surgery : SJS :... Mar 2024Studies on the outcomes of parathyroid surgery are scarce. The aim was to report the outcomes and to study the association between pre- and peri-operative information...
BACKGROUND AND OBJECTIVE
Studies on the outcomes of parathyroid surgery are scarce. The aim was to report the outcomes and to study the association between pre- and peri-operative information with the outcomes of patients operated for primary hyperparathyroidism.
METHODS
This was a retrospective, descriptive study with unselected patients treated surgically for primary hyperparathyroidism from a catchment population of 704,500 in Finland. Data were acquired from the electronic hospital registers based on parathyroid surgery procedure codes between 1 January 2017 and 31 December 2018. Preoperative data, surgical data, preoperative and postoperative laboratory values, histopathological findings, and postoperative clinical data were recorded.
RESULTS
During the 2-year study period, 149 patients with primary hyperparathyroidism were treated surgically with a 97% remission rate. Surgical complications included postoperative bleeding in two patients (1%) and vocal cord paralysis in one patient (0.6%). No postoperative infections were reported. Three patients (2%) developed postoperative hypoparathyroidism necessitating the use of alfacalcidol more than 1 month after surgery. Ionized calcium measured 0-1 days after surgery was not statistically significantly associated with remission or postoperative hypoparathyroidism. Serum parathyroid hormone (PTH) assessed 0-1 days postoperatively was associated with persistent disease, but not with postoperative hypoparathyroidism. The histopathological diagnosis was adenoma or hyperplasia in 112 patients (75%), atypical adenoma in 28 patients (19%), and carcinoma in five patients (3%). Patients with parathyroid carcinoma had higher preoperative ionized calcium and PTH values than those with adenoma or hyperplasia.
CONCLUSIONS
Most patients who were operated due to primary hyperparathyroidism achieved normocalcemia after surgery, and the frequency of complications was low. Ionized calcium taken 0-1 days after surgery was not associated with remission of hyperparathyroidism or postoperative hypoparathyroidism. High postoperative serum PTH predicted persistent disease.
PubMed: 38433618
DOI: 10.1177/14574969241228409 -
The British Journal of Surgery Nov 2023Techniques for autofluorescence have been introduced to visualize the parathyroid glands during surgery and to reduce hypoparathyroidism after thyroidectomy. (Randomized Controlled Trial)
Randomized Controlled Trial
Impact of autofluorescence for detection of parathyroid glands during thyroidectomy on postoperative parathyroid hormone levels: parallel multicentre randomized clinical trial.
BACKGROUND
Techniques for autofluorescence have been introduced to visualize the parathyroid glands during surgery and to reduce hypoparathyroidism after thyroidectomy.
METHODS
This parallel multicentre RCT investigated the use of Fluobeam® LX to visualize the parathyroid glands by autofluorescence during total thyroidectomy compared with no use. There was no restriction on the indication for surgery. Patients were randomized 1 : 1 and were blinded to the group allocation. The hypothesis was that autofluorescence enables identification and protection of the parathyroid glands during thyroidectomy. The primary endpoint was the rate of low parathyroid hormone (PTH) levels the day after surgery.
RESULTS
Some 535 patients were randomized, and 486 patients received an intervention according to the study protocol, 246 in the Fluobeam® LX group and 240 in the control group. Some 64 patients (26.0 per cent) in the Fluobeam® LX group and 77 (32.1 per cent) in the control group had low levels of PTH after thyroidectomy (P = 0.141; relative risk (RR) 0.81, 95 per cent c.i. 0.61 to 1.07). Subanalysis of 174 patients undergoing central lymph node clearance showed that 15 of 82 (18 per cent) in the Fluobeam® LX group and 31 of 92 (33 per cent) in the control group had low levels of PTH on postoperative day 1 (P = 0.021; RR 0.54, 0.31 to 0.93). More parathyroid glands were identified during operation in patients who had surgery with Fluobeam® LX, and fewer parathyroid glands in the surgical specimen on definitive histopathology. No specific harm related to the use of Fluobeam® LX was reported.
CONCLUSION
The use of autofluorescence during thyroidectomy did not reduce the rate of low PTH levels on postoperative day 1 in the whole group of patients. It did, however, reduce the rate in a subgroup of patients. Registration number: NCT04509011 (http://www.clinicaltrials.gov).
Topics: Humans; Parathyroid Glands; Thyroidectomy; Parathyroid Hormone; Hypoparathyroidism; Lymph Nodes; Postoperative Complications; Hypocalcemia
PubMed: 37758507
DOI: 10.1093/bjs/znad278