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Medicina (Kaunas, Lithuania) Jun 2023Acromegaly is a rare disease associated with increased levels of growth hormones (GHs) that stimulates the hepatic production of insulin growth factor-1 (IGF-1)....
Acromegaly is a rare disease associated with increased levels of growth hormones (GHs) that stimulates the hepatic production of insulin growth factor-1 (IGF-1). Increased secretion of both GH and IGF-1 activates pathways, such as Janus kinase 2/signal transducer and activator of transcription 5 (JAK2/STAT5), and mitogen-activated protein kinase (MAPK), involved in the development of tumors. Given the disputed nature of the topic, we decided to study the prevalence of benign and malignant tumors in our cohort of acromegalic patients. In addition, we aimed to identify risk factors or laboratory parameters associated with the occurrence of tumors in these patients. The study group included 34 patients (9 men (25.7%) and 25 women (74.3%)). No clear relationship between the levels of IGF-1 or GH and tumor development could be demonstrated, but certain risk factors, such as diabetes mellitus (DM) and obesity, were more frequent in patients with tumors. In total, 34 benign tumoral proliferations were identified, the most common being multinodular goiter. Malignant tumors were present only in women (14.70%) and the most frequent type was thyroid carcinoma. DM and obesity might be associated with tumoral proliferation in patients with acromegaly, and findings also present in the general population. In our study we did not find a direct link between acromegaly and tumoral proliferations.
Topics: Male; Humans; Female; Acromegaly; Insulin-Like Growth Factor I; Thyroid Neoplasms; Growth Hormone; Diabetes Mellitus; Insulin; Obesity
PubMed: 37374352
DOI: 10.3390/medicina59061148 -
Frontiers in Endocrinology 2023We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the...
We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the TPO gene. She underwent total thyroidectomy at the age of seven years because of the development of a multinodular goiter. BRRS patients present an increased risk of benign and malignant thyroid disease since childhood because of inactivating mutation of PTEN, an onco-suppressor gene. Instead, homozygous mutations in the TPO gene can be associated with severe forms of hypothyroidism with goiter; previous studies have described cases of follicular and papillary thyroid cancer in CH patients with TPO mutation despite a perfectly controlled thyroid function with Levothyroxine therapy. To our knowledge, this is the first case that describes the possible synergic role of coexisting mutation of both TPO and PTEN in the development of multinodular goiter underlining the importance of a tailored surveillance program in these patients, especially during childhood.
Topics: Humans; Child; Female; Hamartoma Syndrome, Multiple; Congenital Hypothyroidism; Mutation; Goiter; Thyroid Neoplasms; PTEN Phosphohydrolase
PubMed: 37361526
DOI: 10.3389/fendo.2023.1205785 -
Endocrinology, Diabetes & Metabolism... Jun 2023We present the first report of use of recombinant human parathyroid hormone (1-84) (rhPTH(1-84)) in a hypoparathyroid patient during early pregnancy and lactation. The...
SUMMARY
We present the first report of use of recombinant human parathyroid hormone (1-84) (rhPTH(1-84)) in a hypoparathyroid patient during early pregnancy and lactation. The patient developed postoperative hypoparathyroidism as a 28-year-old woman following total thyroidectomy for multinodular goiter. She was not well controlled with conventional therapy, and started rhPTH(1-84) in 2015 following its approval in the United States. She became pregnant in 2018 at age 40. She discontinued rhPTH(1-84) therapy at 5 weeks gestation but resumed in the postpartum period while breastfeeding. Her daughter's serum calcium was borderline elevated at 8 days postpartum but within the normal range at 8 weeks postpartum. The patient stopped nursing at around 6 months postpartum. Her daughter is now at 4 years and 5 months of age and is healthy and meeting developmental milestones. She was again pregnant at 8 months postpartum from her first pregnancy, and she made an informed decision to continue parathyroid hormone. At 15 weeks gestation, rhPTH(1-84) was recalled in the United States due to issues with the delivery device, and she discontinued rhPTH(1-84) treatment and resumed calcium and calcitriol supplements. She gave birth to a baby boy at 39 weeks in January 2020. At 3 years and 2 months of age, he is overall healthy. Further data are needed regarding the safety of rhPTH(1-84) in pregnancy and lactation.
LEARNING POINTS
rhPTH(1-84) is approved for therapy of patients with hypoparathyroidism; however, there are no data regarding the safety of treatment during nursing and pregnancy. There are multiple alterations in mineral metabolism during normal pregnancy and lactation.
PubMed: 37335755
DOI: 10.1530/EDM-22-0401 -
TouchREVIEWS in Endocrinology May 2023Thyrolipomatosis, a diffuse non-neoplastic infiltration of fatty tissue in the thyroid gland, is an extremely rare condition with only about 30 cases reported worldwide....
Thyrolipomatosis, a diffuse non-neoplastic infiltration of fatty tissue in the thyroid gland, is an extremely rare condition with only about 30 cases reported worldwide. A few of these cases report the concurrency of thyrolipomatosis and malignant neoplasms in the thyroid or colon, but never with tongue cancer. A 44-year-old female patient with an infiltrative tongue mass suggestive of carcinoma presented for an outpatient consultation. Cervical imaging revealed multiple lymphadenopathies and a multinodular goitre with diffuse fatty infiltration, suggestive of thyrolipomatosis. Surgical intervention included partial resection of the tongue and thyroid (left hemiglossectomy and right hemithyroidectomy, respectively) and lymphadenectomy. The thyroid specimen showed diffuse fat metaplasia of the stromal thyroid tissue, confirming incidental thyrolipomatosis. During post-operative follow-up, the patient presented with recurrence of squamous cell carcinoma as indicated by new right-sided thyroid nodules, left-sided lymphadenopathies with confirmatory biopsy, and a growing neck mass that became infected. The patient developed septic shock and later died. Thyrolipomatosis causes thyroid swelling and can be clinically detected as goitres or as an incidental finding. Diagnosis is suggested by cervical imaging (ultrasonography, computed tomography or magnetic resonance), but confirmation is histological after thyroidectomy. Although thyrolipomatosis is benign, it could develop concurrently with neoplastic diseases, especially on embryologically related tissues (e.g. thyroid and tongue). This case report is the first in the literature describing the coexistence between thyrolipomatosis and tongue cancer in an adult Peruvian patient.
PubMed: 37313243
DOI: 10.17925/EE.2023.19.1.103 -
Indian Journal of Otolaryngology and... Jun 2023Thyroid nodules are one of the most common presentations faced by ENT clinicians, and the prevalence of differentiated thyroid cancer is increasing worldwide. We found...
Thyroid nodules are one of the most common presentations faced by ENT clinicians, and the prevalence of differentiated thyroid cancer is increasing worldwide. We found no other study showing a clear occurence of cancer in thyroid nodules in the state of West Bengal. Hence, we undertook this study to determine the occurence of thyroid cancer among people with thyroid nodules. A retrospective review was performed for 96 patients with thyroid nodules who underwent USG and Fine Needle Aspiration Cytology (FNAC) and thyroid surgery at a tertiary hospital in Kolkata over a 2-year period from January 2020 to December 2021. The occurence of thyroid cancer in patients with thyroid nodules; association with age, sex, duration of thyroid swelling and thyroid stimulating hormone (TSH) levels of the patients; the sonographic findings (nodule size and number) and Bethesda classification on FNAC were reviewed. A total of 96 cases were reviewed. The highest malignancies were seen in swellings of 3-5 years duration (50%), and in patients with increased TSH levels (60%). Patients with single vs. multinodular goitre had comparable rates (23.07 vs 22.22%). The highest risk was seen in nodules 1-2 cm in size. A TIRADS score of 2 had a negative predictive value of 86.95% and a score of 5 had a positive predictive value of 100%. BETHESDA II lesions had a 3.44% rate of malignancy, while BETHESDA V and VI had rates of 100% and 75% respectively. While most of the thyroid swellings were benign, 22.91% were malignant, the most common being papillary carcinomas.
PubMed: 37275012
DOI: 10.1007/s12070-022-03463-w -
Frontiers in Endocrinology 2023The use of iodinated contrast media (ICM) can lead to thyrotoxicosis, especially in patients with risk factors, such as Graves' disease, multinodular goiter, older age,...
INTRODUCTION
The use of iodinated contrast media (ICM) can lead to thyrotoxicosis, especially in patients with risk factors, such as Graves' disease, multinodular goiter, older age, and iodine deficiency. Although hyperthyroidism may have clinically relevant effects, whether high-risk patients should receive prophylactic treatment before they are administered ICM is still debated.
AIM OF THE STUDY
We aimed to demonstrate the safety and efficacy of prophylactic treatment with sodium perchlorate and/or methimazole to prevent ICM-induced hyperthyroidism (ICMIH) in a population of high-risk cardiac patients. We ran a cost analysis to ascertain the most cost-effective prophylactic treatment protocol. We also aimed to identify possible risk factors for the onset of ICMIH.
MATERIALS AND METHODS
We performed a longitudinal retrospective study on 61 patients admitted to a tertiary-level cardiology unit for diagnostic and/or therapeutic ICM-procedures. We included patients with available records of thyroid function tests performed before and after ICM were administered, who were at high risk of developing ICMIH. Patients were given one of two different prophylactic treatments (methimazole alone or both methimazole and sodium perchlorate) or no prophylactic treatment. The difference between their thyroid function at the baseline and 11-30 days after the ICM-related procedure was considered the principal endpoint.
RESULTS
Twenty-three (38%) of the 61 patients were given a prophylactic treatment. Thyroid function deteriorated after the administration of ICM in 9/61 patients (15%). These cases were associated with higher plasma creatinine levels at admission, higher baseline TSH levels, lower baseline FT4 levels, and no use of prophylactic treatment. The type of prophylaxis provided did not influence any onset of ICMIH. A cost-benefit analysis showed that prophylactic treatment with methimazole alone was less costly per person than the combination protocol. On multivariate analysis, only the use of a prophylactic treatment was independently associated with a reduction in the risk of ICMIH. Patients not given any prophylactic treatment had a nearly five-fold higher relative risk of developing ICMIH.
CONCLUSION
Prophylactic treatment can prevent the onset of ICMIH in high-risk populations administered ICM. Prophylaxis is safe and effective in this setting, especially in cardiopathic patients. Prophylaxis with methimazole alone seems to be the most cost-effective option.
Topics: Humans; Contrast Media; Methimazole; Retrospective Studies; Hyperthyroidism; Graves Disease; Risk Factors
PubMed: 37255974
DOI: 10.3389/fendo.2023.1154251 -
Pakistan Journal of Medical Sciences 2023To determine the sensitivity of ACR-TIRADS scoring by comparing its results with those obtained on biopsy of respective specimens.
OBJECTIVE
To determine the sensitivity of ACR-TIRADS scoring by comparing its results with those obtained on biopsy of respective specimens.
METHOD
This prospective study including N=205 patients with thyroid nodules was conducted in ENT Department of MTI Hayatabad Medical complex, Peshawar during the period from May 1, 2019 to April 30, 2022. Preoperative ultrasonography with assigning of TIRADS scores was performed in all patients. Appropriate thyroidectomies were performed in these patients and specimen biopsied. Pre-op TIRADS scores were compared with biopsy results. To determine the sensitivity of TIRADS, TR1 and TR2 were considered 'benign' and TR3, TR4, TR5 were considered 'malignant' for comparison with biopsy results.
RESULTS
The mean age of patients was 37.68 years with standard deviation of ±11.52. The M: F ratio was 1:3.5. Nineteen patients (9.27%) had solitary thyroid nodules & 186 (90.73%) had multinodular goiters. TIRADS scoring was benign for 171 (83.41%) and malignant for 34 (16.58%) nodules. The biopsy results revealed 180 (87.80%) nodules to benign and the rest as malignant. The sensitivity, specificity and diagnostic accuracy were calculated at 80%, 92.77% and 91.21% respectively. Chi square test and p-value determination showed that there was a strong positive concordance between TIRADS scores & biopsy results which is highly significant (p=.001).
CONCLUSION
The Ultrasonographic ACR-TIRADS scoring and risk stratification system is highly sensitive for detecting malignancy in thyroid nodules. It is, therefore, a reliable technique in the initial assessment of thyroid nodules and decisions can safely be based on its results. In cases of doubt, clinical judgment should be exercised before making final decision.
PubMed: 37250572
DOI: 10.12669/pjms.39.3.7313 -
Familial Cancer Oct 2023DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages....
DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients suspected to have DICER1 syndrome. Both females (aged 13 and 15 years) presented with multinodular goiter (thyroid follicular nodular disease) and ovarian tumours. One was diagnosed with an ovarian Sertoli-Leydig cell tumour (SLCT) and the other, with an ovarian juvenile granulosa cell tumour, later reclassified as a retiform variant of SLCT. Genetic screening showed no germline pathogenic variants in DICER1. However, two potentially splicing variants were found, DICER1 c.5365-4A>G and c.5527+3A>G. Also, typical somatic DICER1 RNase IIIb hotspot mutations were detected in the thyroid and ovarian tissues. In silico splicing algorithms predicted altered splicing for both germline variants and skipping of exon 25 was confirmed by RNA assays for both variants. The reclassification of the ovarian tumour, leading to recognition of the association with DICER1 syndrome and the characterization of the germline intronic variants were all applied to recently described DICER1 variant classification rules. This ultimately resulted in confirmation of DICER1 syndrome in the two teenage girls.
Topics: Male; Female; Adolescent; Humans; Sertoli-Leydig Cell Tumor; Germ-Line Mutation; Ovarian Neoplasms; Thyroid Gland; Ribonuclease III; Neoplastic Syndromes, Hereditary; Germ Cells; Mutation; DEAD-box RNA Helicases
PubMed: 37248399
DOI: 10.1007/s10689-023-00336-1 -
Cureus Apr 2023Background This study aimed to investigate the incidence and subtype of thyroid cancer in multinodular goitre (MNG) patients who underwent total thyroidectomy....
Background This study aimed to investigate the incidence and subtype of thyroid cancer in multinodular goitre (MNG) patients who underwent total thyroidectomy. Methodology A cross-sectional study was conducted at the Khyber Teaching Hospital, screening 207 MNG patients who received complete thyroidectomies between July and December 2022. The senior consultant diagnosed thyroid cancer based on a complete history, physical examination, and laboratory and radiological studies. Ultrasound-guided fine-needle aspiration cytology was performed by a senior consultant radiologist. Bethesda categories for all lesions were recorded. All patients underwent thyroidectomy, and the diagnosis of thyroid cancer was confirmed on histopathology. Results A total of 207 patients were included in the study, with a mean age of 45.55 ± 8.75 years. Out of 207 patients, 24 (11.59%) were diagnosed with thyroid cancer. Out of 62 male patients, 15 (7.25%) had thyroid cancer. Out of 145 female patients, only nine had cancer (p < 0.001). Nine patients with thyroid cancer had a body mass index (BMI) below 18, compared to only five patients with a BMI of more than 30 kg/m. The difference in age distribution was not significant in our study (p = 0.102). Conclusion In conclusion, our study sheds light on the frequency and potential risk factors associated with thyroid cancer in patients with multinodular goiter. Our findings reveal that papillary thyroid carcinoma is the most commonly observed form of thyroid cancer in this patient population, with around 12 percent of patients diagnosed with thyroid cancer. Notably, our study highlights that male patients and those with a lower BMI may have a greater risk of developing thyroid cancer in the context of multinodular goiter. The findings of this study have important implications for the care and follow-up of MNG patients who receive total thyroidectomy. Further research is needed to investigate the type and prognosis of thyroid cancer in patients with MNG.
PubMed: 37220458
DOI: 10.7759/cureus.37921 -
Cureus Apr 2023Severe thyrotoxicosis is an acute and life-threatening state of hyperthyroidism. While it is a rare presentation of hyperthyroidism, it is clinically significant because...
Severe thyrotoxicosis is an acute and life-threatening state of hyperthyroidism. While it is a rare presentation of hyperthyroidism, it is clinically significant because of its high mortality and necessitates early identification and treatment to reduce the incidence of poor outcomes. The most common causes of this hypermetabolic state are Graves' disease, toxic thyroid adenoma or multinodular goiter, thyroiditis, iodine-induced hyperthyroidism, and excessive intake of levothyroxine. The less common causes include trauma, medications (i.e., amiodarone), discontinuation of anti-thyroid medications, and interactions with sympathomimetic medications such as ketamine that may be administered during general anesthesia. Regardless of etiology, thyrotoxicosis management should be coordinated using an interdisciplinary team-based approach to optimize outcomes. We discuss a molar pregnancy requiring emergency surgery as an uncommon cause of thyrotoxicosis and highlight appropriate management steps. The patient's symptoms resolved post-operatively, and her post-operative laboratory results (thyroid function and beta-human chorionic gonadotropin {β-hCG}) were followed until they normalized. The patient's preoperative presentation and preparation with a multidisciplinary team discussion, intraoperative anesthetic considerations and course, and post-operative management and follow-up are described.
PubMed: 37197102
DOI: 10.7759/cureus.37582