Fahr's syndrome is a rare neurological disorder with abnormal calcium deposition in the basal ganglia. The case report describes a patient with movement disorders and cognitive decline for four years due to Fahr's syndrome.
Case presentation
A 44-year-old Iranian woman presented with movement abnormalities and shuffling gait and cognitive impairment in 2019. She developed muscle cramps and worsening cognitive decline by 2021. The clinical examination showed a positive Chvostek sign, and laboratory tests indicated hypocalcemia, hyperphosphatemia, and low PTH levels. She had no history of neck surgery. Imaging including brain MRI and CT scan confirmed basal ganglia calcification, leading to a diagnosis of Fahr's syndrome due to hypoparathyroidism. Treatment included oral calcium carbonate and calcitriol to manage symptoms.
Conclusion
Hypoparathyroidism may be indicated in patients with neuropsychiatric symptoms. Measurement of serum calcium, phosphorus, and PTH levels is suggested to confirm the diagnosis due to common basal ganglia calcification in hypoparathyroidism.
{"title":"A Fahr's syndrome presented with movement disorder in an Iranian woman","authors":"Masoumeh Azadi , Azam Keshavarzi , Neda Hatami , Iraj Heydari","doi":"10.1016/j.jecr.2026.100209","DOIUrl":"10.1016/j.jecr.2026.100209","url":null,"abstract":"<div><h3>Background</h3><div>Fahr's syndrome is a rare neurological disorder with abnormal calcium deposition in the basal ganglia. The case report describes a patient with movement disorders and cognitive decline for four years due to Fahr's syndrome.</div></div><div><h3>Case presentation</h3><div>A 44-year-old Iranian woman presented with movement abnormalities and shuffling gait and cognitive impairment in 2019. She developed muscle cramps and worsening cognitive decline by 2021. The clinical examination showed a positive Chvostek sign, and laboratory tests indicated hypocalcemia, hyperphosphatemia, and low PTH levels. She had no history of neck surgery. Imaging including brain MRI and CT scan confirmed basal ganglia calcification, leading to a diagnosis of Fahr's syndrome due to hypoparathyroidism. Treatment included oral calcium carbonate and calcitriol to manage symptoms.</div></div><div><h3>Conclusion</h3><div>Hypoparathyroidism may be indicated in patients with neuropsychiatric symptoms. Measurement of serum calcium, phosphorus, and PTH levels is suggested to confirm the diagnosis due to common basal ganglia calcification in hypoparathyroidism.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"39 ","pages":"Article 100209"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146077425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-17DOI: 10.1016/j.jecr.2026.100211
Prodipta Chowdhury, Tania Tofail
Background
Prolactinomas are the most common pituitary adenomas and are usually microadenomas; however, macroprolactinomas (>4 cm) may lead to significant hyperprolactinemia and mass effects. Dopamine agonists (DAs) are the first-line therapy, while surgery is reserved for cases with resistance to medical treatment or visual compromise.
Case summary
A 27-year-old woman with recurrent macroprolactinoma, previously treated with transsphenoidal pituitary surgery five years earlier, presented with secondary amenorrhea, primary subfertility, and persistent headache. Menstrual cycles did not resume after surgery, and headaches persisted. Treatment with cabergoline resulted in a marked reduction in serum prolactin levels, although tumor size showed minimal regression. Five months later, she presented with nausea and vomiting and was found to be pregnant. Cabergoline therapy was continued throughout pregnancy. Serial clinical evaluations demonstrated no tumor enlargement or deterioration in visual function. The patient delivered a healthy infant by cesarean section. In the postpartum period, menstrual cycles resumed and headache severity improved. Management of macroprolactinomas during pregnancy is challenging due to the risk of tumor enlargement. In this case, continued cabergoline therapy effectively prevented tumor progression. Close monitoring with clinical assessment, visual field testing, and imaging was essential.
Conclusion
This case illustrates that pregnancy in patients with macroprolactinomas requires vigilant monitoring. Continuation of cabergoline throughout pregnancy was safe and resulted in favorable maternal and neonatal outcomes.
{"title":"Managing the challenges of pregnancy in a case of recurrent macroprolactinoma: A balancing act","authors":"Prodipta Chowdhury, Tania Tofail","doi":"10.1016/j.jecr.2026.100211","DOIUrl":"10.1016/j.jecr.2026.100211","url":null,"abstract":"<div><h3>Background</h3><div>Prolactinomas are the most common pituitary adenomas and are usually microadenomas; however, macroprolactinomas (>4 cm) may lead to significant hyperprolactinemia and mass effects. Dopamine agonists (DAs) are the first-line therapy, while surgery is reserved for cases with resistance to medical treatment or visual compromise.</div></div><div><h3>Case summary</h3><div>A 27-year-old woman with recurrent macroprolactinoma, previously treated with transsphenoidal pituitary surgery five years earlier, presented with secondary amenorrhea, primary subfertility, and persistent headache. Menstrual cycles did not resume after surgery, and headaches persisted. Treatment with cabergoline resulted in a marked reduction in serum prolactin levels, although tumor size showed minimal regression. Five months later, she presented with nausea and vomiting and was found to be pregnant. Cabergoline therapy was continued throughout pregnancy. Serial clinical evaluations demonstrated no tumor enlargement or deterioration in visual function. The patient delivered a healthy infant by cesarean section. In the postpartum period, menstrual cycles resumed and headache severity improved. Management of macroprolactinomas during pregnancy is challenging due to the risk of tumor enlargement. In this case, continued cabergoline therapy effectively prevented tumor progression. Close monitoring with clinical assessment, visual field testing, and imaging was essential.</div></div><div><h3>Conclusion</h3><div>This case illustrates that pregnancy in patients with macroprolactinomas requires vigilant monitoring. Continuation of cabergoline throughout pregnancy was safe and resulted in favorable maternal and neonatal outcomes.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"39 ","pages":"Article 100211"},"PeriodicalIF":0.0,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146037610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cellulitis is a common bacterial infection involving the dermis and subcutaneous tissue, most often caused by group A streptococcus or methicillin-sensitive Staphylococcus aureus. Rarely, cellulitis may be caused by atypical organisms such as Pseudomonas aeruginosa, particularly in patients who are diabetic or immunocompromised. Clinically, cellulitis presents as a poorly demarcated, spreading, edematous, and erythematous lesion, which may develop bullae and vesicles. Bullous cellulitis is more commonly associated with Staphylococcal or group A streptococcus infections if present.
Objective
The purpose of this study is to present a case of a bullous cellulitis caused by Pseudomonas aeruginosa in a patient with type 2 diabetes mellitus (DM2) and HIV, and to discuss the importance of tailoring antimicrobial therapy based on patient-specific risk factors.
Methods
A retrospective case study was conducted using medical chart data from a single patient treated at an urban tertiary care safety-net hospital.
Limitations
Due to the recent nature of the case and the patient's outpatient follow-up at an external facility, follow-up data is limited.
Conclusion
This case reinforces the importance of individualizing empiric antibiotic therapy in patients with known risk factors such as diabetes or immunocompromised status. Specific patient risk factors, if present, should prompt clinicians to broaden their differential and adjust treatment accordingly. Early recognition and personalized management may improve clinical outcomes in cellulitis.
{"title":"Bullous cellulitis due to Pseudomonas aeruginosa in a diabetic HIV-positive patient","authors":"Grace Evelyn Steinback, Fariha Shafi, Maria Alvarenga, Brittany Oliver, Allison Swanson, Anand Rajpara","doi":"10.1016/j.jecr.2025.100208","DOIUrl":"10.1016/j.jecr.2025.100208","url":null,"abstract":"<div><h3>Background</h3><div>Cellulitis is a common bacterial infection involving the dermis and subcutaneous tissue, most often caused by group A streptococcus or methicillin-sensitive <em>Staphylococcus aureus</em>. Rarely, cellulitis may be caused by atypical organisms such as <em>Pseudomonas aeruginosa</em>, particularly in patients who are diabetic or immunocompromised. Clinically, cellulitis presents as a poorly demarcated, spreading, edematous, and erythematous lesion, which may develop bullae and vesicles. Bullous cellulitis is more commonly associated with <em>Staphylococcal</em> or group A streptococcus infections if present.</div></div><div><h3>Objective</h3><div>The purpose of this study is to present a case of a bullous cellulitis caused by <em>Pseudomonas aeruginosa</em> in a patient with type 2 diabetes mellitus (DM2) and HIV, and to discuss the importance of tailoring antimicrobial therapy based on patient-specific risk factors.</div></div><div><h3>Methods</h3><div>A retrospective case study was conducted using medical chart data from a single patient treated at an urban tertiary care safety-net hospital.</div></div><div><h3>Limitations</h3><div>Due to the recent nature of the case and the patient's outpatient follow-up at an external facility, follow-up data is limited.</div></div><div><h3>Conclusion</h3><div>This case reinforces the importance of individualizing empiric antibiotic therapy in patients with known risk factors such as diabetes or immunocompromised status. Specific patient risk factors, if present, should prompt clinicians to broaden their differential and adjust treatment accordingly. Early recognition and personalized management may improve clinical outcomes in cellulitis.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"39 ","pages":"Article 100208"},"PeriodicalIF":0.0,"publicationDate":"2025-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145798480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Primary hyperoxaluria type 1 (PH1) is a genetic disorder by defect in the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Here, we report the clinical and molecular data of four Iranian patients with PH1. Whole exome sequencing revealed six pathogenic or likely pathogenic variants in the AGXT gene in the assessed patients. A single case was found to have a likely pathogenic heterozygote variant in the SLC3A1 in addition to a likely pathogenic variant in the AGXT gene. Two novel variants, namely c.547G > T (p.D183Y) and c.647G > A (p.G216E) were detected in this gene in two distinctive patients. Notably, the latter novel variant was inherited in compound heterozygous state with another pathogenic variant in this gene, namely c.971_972del (p.V324Gfs∗7). Most notably, a single patient was found to be homozygote for two likely pathogenic variants in this gene, namely c.710C > T (p.P237L) and c.717_719del (p.F240del). The current study broadens knowledge regarding the spectrum of AGXT mutations among Iranian patients.
原发性高草酸尿1型（PH1）是一种由肝脏过氧化物酶丙氨酸-乙醛酸氨基转移酶（AGT）缺陷引起的遗传性疾病。在这里，我们报告了4名伊朗患者的临床和分子数据。全外显子组测序显示，在评估的患者中，AGXT基因存在6种致病性或可能致病性变异。除了在AGXT基因中发现可能的致病性变异外，还发现单个病例在SLC3A1中具有可能的致病性杂合子变异。在两个不同的患者中检测到该基因的两个新的变体，即c.547G > T （p.D183Y）和c.647G > A （p.G216E）。值得注意的是，后一个新变异以复合杂合状态遗传给该基因的另一个致病变异，即c.971 . 972del （p.V324Gfs * 7）。最值得注意的是，单个患者发现该基因的两个可能的致病变异为纯合子，即c.710C > T （p.P237L）和c.717_719del （p.p f240del）。目前的研究扩大了对伊朗患者中AGXT突变谱的认识。
{"title":"Spectrum of genetic mutations among Iranian patients with primary hyperoxaluria type 1","authors":"Mohadeseh Fathi , Sheyda Khalilian , Nakysa Hooman , Mostafa Sharifian , Saeed Talebi , Faezeh Sherafat , Fatemeh Fazeli , Mohammad Miryounesi , Soudeh Ghafouri-Fard","doi":"10.1016/j.jecr.2025.100207","DOIUrl":"10.1016/j.jecr.2025.100207","url":null,"abstract":"<div><div>Primary hyperoxaluria type 1 (PH1) is a genetic disorder by defect in the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Here, we report the clinical and molecular data of four Iranian patients with PH1. Whole exome sequencing revealed six pathogenic or likely pathogenic variants in the <em>AGXT</em> gene in the assessed patients. A single case was found to have a likely pathogenic heterozygote variant in the <em>SLC3A1</em> in addition to a likely pathogenic variant in the <em>AGXT</em> gene. Two novel variants, namely c.547G > T (p.D183Y) and c.647G > A (p.G216E) were detected in this gene in two distinctive patients. Notably, the latter novel variant was inherited in compound heterozygous state with another pathogenic variant in this gene, namely c.971_972del (p.V324Gfs∗7). Most notably, a single patient was found to be homozygote for two likely pathogenic variants in this gene, namely c.710C > T (p.P237L) and c.717_719del (p.F240del). The current study broadens knowledge regarding the spectrum of <em>AGXT</em> mutations among Iranian patients.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"39 ","pages":"Article 100207"},"PeriodicalIF":0.0,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145747005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-05DOI: 10.1016/j.jecr.2025.100206
Bassem Al Hariri , Mohamed Gaafar Hussein Mohamedali , Areej Ahmed Abdalla Hassan , Amna Satti Sheikhali Satti , Aya Ahmed Omer Elbagir , Mohamed Afif MohamedAli Ahmed , Zainab Yassir Galaleldin Saleh , Shahad Abdulsalam Hussein Fatlawi
Background
Adrenal Insufficiency is an uncommon disease, presenting with relatively vague signs and symptoms making diagnosis highly challenging [1]. Generalized weakness, anorexia, fatigue, malaise, and weight loss are some examples of how a patient may present. We present a case of secondary adrenal insufficiency with evidence of peritoneal caking suggestive of, but unconfirmed as, granulomatous disease.
Case presentation
A 31-year-old male presented complaining of a one-month history of nausea, fatigue, and loss of appetite. Clinical examinations revealed tachycardia, altered mental status, and signs of dehydration. Hyperpigmentation of the oral mucosa and lips was evident, in addition to abdominal striae. Laboratory evaluation revealed normal serum potassium (4.2 mmol/L), hypercalcemia (3.35 mmol/L), and hypercalciuria. A diagnosis of adrenal insufficiency was confirmed by the Short Synacthen Test (SST) result which revealed: Baseline cortisol: 336 nmol/L, 30 min: 374 nmol/L, 60 min: 362 nmol/L, AM ACTH: 21.3 pg/mL. Adrenal CT showed normal adrenal glands. Pan-CT revealed nodular peritoneal thickening with omental caking; however, peritoneal biopsy was negative for tuberculosis and malignancy. The patient started glucocorticoid replacement therapy and showed improvement on follow-up.
Conclusion
Secondary adrenal insufficiency can present with rare and non-classic findings such as abnormal biochemical results and imaging features suggestive of infiltrative disease. This case highlights the importance of considering secondary and infiltrative causes in atypical presentations while acknowledging that definitive histological confirmation may not be obtained [2].
{"title":"Adrenal insufficiency with peritoneal caking in a young male: The role of granulomatous disease in a non-classic presentation: A case report","authors":"Bassem Al Hariri , Mohamed Gaafar Hussein Mohamedali , Areej Ahmed Abdalla Hassan , Amna Satti Sheikhali Satti , Aya Ahmed Omer Elbagir , Mohamed Afif MohamedAli Ahmed , Zainab Yassir Galaleldin Saleh , Shahad Abdulsalam Hussein Fatlawi","doi":"10.1016/j.jecr.2025.100206","DOIUrl":"10.1016/j.jecr.2025.100206","url":null,"abstract":"<div><h3>Background</h3><div>Adrenal Insufficiency is an uncommon disease, presenting with relatively vague signs and symptoms making diagnosis highly challenging [1]. Generalized weakness, anorexia, fatigue, malaise, and weight loss are some examples of how a patient may present. We present a case of secondary adrenal insufficiency with evidence of peritoneal caking suggestive of, but unconfirmed as, granulomatous disease.</div></div><div><h3>Case presentation</h3><div>A 31-year-old male presented complaining of a one-month history of nausea, fatigue, and loss of appetite. Clinical examinations revealed tachycardia, altered mental status, and signs of dehydration. Hyperpigmentation of the oral mucosa and lips was evident, in addition to abdominal striae. Laboratory evaluation revealed normal serum potassium (4.2 mmol/L), hypercalcemia (3.35 mmol/L), and hypercalciuria. A diagnosis of adrenal insufficiency was confirmed by the Short Synacthen Test (SST) result which revealed: Baseline cortisol: 336 nmol/L, 30 min: 374 nmol/L, 60 min: 362 nmol/L, AM ACTH: 21.3 pg/mL. Adrenal CT showed normal adrenal glands. Pan-CT revealed nodular peritoneal thickening with omental caking; however, peritoneal biopsy was negative for tuberculosis and malignancy. The patient started glucocorticoid replacement therapy and showed improvement on follow-up.</div></div><div><h3>Conclusion</h3><div>Secondary adrenal insufficiency can present with rare and non-classic findings such as abnormal biochemical results and imaging features suggestive of infiltrative disease. This case highlights the importance of considering secondary and infiltrative causes in atypical presentations while acknowledging that definitive histological confirmation may not be obtained [2].</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"39 ","pages":"Article 100206"},"PeriodicalIF":0.0,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145747006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-04DOI: 10.1016/j.jecr.2025.100204
Tatiana Tselovalnikova , Shourya Tadisina , Yazan Almohtasib , Lamont Weide , Betty M. Drees , Kamani M. Lankachandra , Emmeline Monique Tan Ngo
Background/objective
Simultaneous skeletal muscle and bone metastases in thyroid carcinoma are exceedingly uncommon. The objective of this report is to describe diagnostic and management challenges of thyroid cancer presenting with distant metastases over a decade after initial lobectomy.
Case presentation
A 47-year-old man presented with a history of left thyroid lobectomy for a presumably benign nodule (pathology unavailable). Twelve years later he was found to have a 1.9 cm left thyroid nodule with calcifications. Fine-needle aspiration revealed atypical cells of undetermined significance, and subsequent left hemithyroidectomy revealed benign hyperplastic nodule. Follow-up imaging identified new right thyroid nodules that progressively enlarged over three years but were cytologically benign on repeated fine needle aspirations. He then presented with left deltoid muscle mass, which was excised, and pathology revealed nodular thyroid tissue with mild atypia. A whole-body radioactive iodine I-131 scan demonstrated uptake in thyroid bed, left iliac crest, and sacrum. Right thyroid lobectomy showed 0.17 cm follicular variant of papillary thyroid carcinoma with BRAF V600E mutation. Levothyroxine was started, and I-131 radioiodine therapy (98.3 mCi) was performed; however, repeat 131 whole-body scan revealed residual focus within right midline thorax.
Discussion
Although papillary thyroid microcarcinoma was identified, the metastatic pattern could be consistent with a missed well-differentiated follicular thyroid carcinoma at initial surgery.
Conclusion
This case highlights the importance of long-term surveillance and continuity of care in thyroid cancer. Initial or recurrent thyroid cancer recurrence may present with uncommon patterns of metastases.
{"title":"Synchronous muscle and bone metastases in thyroid cancer","authors":"Tatiana Tselovalnikova , Shourya Tadisina , Yazan Almohtasib , Lamont Weide , Betty M. Drees , Kamani M. Lankachandra , Emmeline Monique Tan Ngo","doi":"10.1016/j.jecr.2025.100204","DOIUrl":"10.1016/j.jecr.2025.100204","url":null,"abstract":"<div><h3>Background/objective</h3><div>Simultaneous skeletal muscle and bone metastases in thyroid carcinoma are exceedingly uncommon. The objective of this report is to describe diagnostic and management challenges of thyroid cancer presenting with distant metastases over a decade after initial lobectomy.</div></div><div><h3>Case presentation</h3><div>A 47-year-old man presented with a history of left thyroid lobectomy for a presumably benign nodule (pathology unavailable). Twelve years later he was found to have a 1.9 cm left thyroid nodule with calcifications. Fine-needle aspiration revealed atypical cells of undetermined significance, and subsequent left hemithyroidectomy revealed benign hyperplastic nodule. Follow-up imaging identified new right thyroid nodules that progressively enlarged over three years but were cytologically benign on repeated fine needle aspirations. He then presented with left deltoid muscle mass, which was excised, and pathology revealed nodular thyroid tissue with mild atypia. A whole-body radioactive iodine I-131 scan demonstrated uptake in thyroid bed, left iliac crest, and sacrum. Right thyroid lobectomy showed 0.17 cm follicular variant of papillary thyroid carcinoma with <em>BRAF V600E</em> mutation. Levothyroxine was started, and I-131 radioiodine therapy (98.3 mCi) was performed; however, repeat 131 whole-body scan revealed residual focus within right midline thorax.</div></div><div><h3>Discussion</h3><div>Although papillary thyroid microcarcinoma was identified, the metastatic pattern could be consistent with a missed well-differentiated follicular thyroid carcinoma at initial surgery.</div></div><div><h3>Conclusion</h3><div>This case highlights the importance of long-term surveillance and continuity of care in thyroid cancer. Initial or recurrent thyroid cancer recurrence may present with uncommon patterns of metastases.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"39 ","pages":"Article 100204"},"PeriodicalIF":0.0,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145694857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01DOI: 10.1016/j.jecr.2025.100203
Amir Mohammad Jaladat , Erfan Taherifard , Alireza Sadeghi , Mehdi Pasalar
Background
Infertility affects many Iranian couples, with male factors accounting for a significant portion of cases. However, the causes of male infertility, including the unexplained cases, remain unclear. While conventional medicine offers various treatments, alternative approaches like herbal remedies and acupuncture have gained popularity. One such remedy is Triphala, an Ayurvedic herbal blend suggested for male infertility, particularly in obese individuals, to improve semen quality.
Case presentation
This case study focuses on a 27-year-old male with obesity and infertility who underwent treatment with Triphala. After two months of Triphala usage and no weight reduction, the patient showed improvements in sperm parameters, leading to a successful pregnancy within a month.
Conclusion
This case report suggests that Triphala, a traditional medicine, may have positive effects on male infertility by providing protection. The observed improvement in sperm characteristics is believed to be linked to Triphala's anti-obesity and anti-oxidative properties. However, further research with rigorous methodologies is needed to better understand the underlying mechanisms at the molecular, cellular, and clinical levels.
{"title":"Triphala: A holistic remedy for male infertility - Insights from a case report in Persian traditional medicine","authors":"Amir Mohammad Jaladat , Erfan Taherifard , Alireza Sadeghi , Mehdi Pasalar","doi":"10.1016/j.jecr.2025.100203","DOIUrl":"10.1016/j.jecr.2025.100203","url":null,"abstract":"<div><h3>Background</h3><div>Infertility affects many Iranian couples, with male factors accounting for a significant portion of cases. However, the causes of male infertility, including the unexplained cases, remain unclear. While conventional medicine offers various treatments, alternative approaches like herbal remedies and acupuncture have gained popularity. One such remedy is Triphala, an Ayurvedic herbal blend suggested for male infertility, particularly in obese individuals, to improve semen quality.</div></div><div><h3>Case presentation</h3><div>This case study focuses on a 27-year-old male with obesity and infertility who underwent treatment with Triphala. After two months of Triphala usage and no weight reduction, the patient showed improvements in sperm parameters, leading to a successful pregnancy within a month.</div></div><div><h3>Conclusion</h3><div>This case report suggests that Triphala, a traditional medicine, may have positive effects on male infertility by providing protection. The observed improvement in sperm characteristics is believed to be linked to Triphala's anti-obesity and anti-oxidative properties. However, further research with rigorous methodologies is needed to better understand the underlying mechanisms at the molecular, cellular, and clinical levels.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"38 ","pages":"Article 100203"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145623024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Levothyroxine (LT4) monotherapy remains the standard treatment for hypothyroidism in current clinical practice. However, a subset of patients on LT4 continue to experience fatigue and other hypothyroid symptoms despite normal thyroid-stimulating hormone (TSH) and free T4 (FT4) levels.
Methods
Three patients with symptomatic hypothyroidism on LT4 monotherapy were transitioned to combination therapy with liothyronine (LT3) by reducing LT4 dosage and adding LT3 5 μg daily. All had a normal TSH and low total triiodothyronine T3 levels. LT3 was administered in the morning alongside LT4, with one patient requiring an additional afternoon dose (3:00 and 5:00 p.m.) for symptom control. Laboratory values and clinical symptoms were reassessed after initiating combination thyroid hormone therapy.
Results
A 67-year-old woman with idiopathic bradycardia and fatigue experienced marked improvement in energy and bradycardia, accompanied by normalization of T3 levels and improved heart rate at clinic visits. A 58-year-old woman with post-ablative hypothyroidism reported improved fatigue and modest weight loss. A 40-year-old man post-thyroidectomy for papillary thyroid carcinoma noted improvement of fatigue, daytime sleepiness and serum T3 concentrations. Across all three cases, total T3 levels increased, and symptom burden decreased following LT4 + LT3 therapy.
Conclusion
In select hypothyroid patients with persistent symptoms and low total T3 despite normal TSH, addition of liothyronine to levothyroxine may improve both biochemical and clinical outcomes. These findings highlight the potential benefit of individualized thyroid hormone replacement strategies in optimizing thyroid hormone status.
{"title":"Combination therapy with levothyroxine and liothyronine in hypothyroid patients with persistent symptoms: A case series","authors":"Kal Peterman , Rachel Haide Naraval Tacata , Novea Cerezo , Isabel Casimiro","doi":"10.1016/j.jecr.2025.100201","DOIUrl":"10.1016/j.jecr.2025.100201","url":null,"abstract":"<div><h3>Background</h3><div>Levothyroxine (LT4) monotherapy remains the standard treatment for hypothyroidism in current clinical practice. However, a subset of patients on LT4 continue to experience fatigue and other hypothyroid symptoms despite normal thyroid-stimulating hormone (TSH) and free T4 (FT4) levels.</div></div><div><h3>Methods</h3><div>Three patients with symptomatic hypothyroidism on LT4 monotherapy were transitioned to combination therapy with liothyronine (LT3) by reducing LT4 dosage and adding LT3 5 μg daily. All had a normal TSH and low total triiodothyronine T3 levels. LT3 was administered in the morning alongside LT4, with one patient requiring an additional afternoon dose (3:00 and 5:00 p.m.) for symptom control. Laboratory values and clinical symptoms were reassessed after initiating combination thyroid hormone therapy.</div></div><div><h3>Results</h3><div>A 67-year-old woman with idiopathic bradycardia and fatigue experienced marked improvement in energy and bradycardia, accompanied by normalization of T3 levels and improved heart rate at clinic visits. A 58-year-old woman with post-ablative hypothyroidism reported improved fatigue and modest weight loss. A 40-year-old man post-thyroidectomy for papillary thyroid carcinoma noted improvement of fatigue, daytime sleepiness and serum T3 concentrations. Across all three cases, total T3 levels increased, and symptom burden decreased following LT4 + LT3 therapy.</div></div><div><h3>Conclusion</h3><div>In select hypothyroid patients with persistent symptoms and low total T3 despite normal TSH, addition of liothyronine to levothyroxine may improve both biochemical and clinical outcomes. These findings highlight the potential benefit of individualized thyroid hormone replacement strategies in optimizing thyroid hormone status.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"38 ","pages":"Article 100201"},"PeriodicalIF":0.0,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145465773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-16DOI: 10.1016/j.jecr.2025.100202
Z. Pribilincová , M. Ševecová , M. Giertlová , M. Kolníková
Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan–Herndon–Dudley syndrome, is a rare genetic disorder affecting thyroid hormone transport. It is characterised by severely debilitating neurodevelopmental and endocrinological impairments, further complicated by numerous diagnostic challenges. Here, we describe the clinical journey of a male infant from birth to MCT8 deficiency diagnosis at 23 months of age and 20 months of follow-up post diagnosis. The patient presented with hypotonia, abnormal thyroid hormone levels, epilepsy and failure to gain weight. A diagnosis of MCT8 deficiency was confirmed upon identifying a pathogenic variant in the SLC16A2 gene, which encodes the MCT8 protein. The patient was initiated on 350 μg daily of tiratricol, escalated to 350 μg twice daily, and following intolerance during further escalation, the dose was maintained at 350 μg twice daily. With 11 months of treatment follow-up, the patient has shown promising signs of thyroid hormone normalization and improved weight gain. This case highlights the importance of early recognition and a well-coordinated multidisciplinary team spanning numerous specialisms to optimise outcomes for patients with MCT8 deficiency, while providing real-world data on the effects of tiratricol treatment.
{"title":"Real-world tiratricol treatment outcomes and the importance of early detection and multidisciplinary teams in MCT8 deficiency: A case report","authors":"Z. Pribilincová , M. Ševecová , M. Giertlová , M. Kolníková","doi":"10.1016/j.jecr.2025.100202","DOIUrl":"10.1016/j.jecr.2025.100202","url":null,"abstract":"<div><div>Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan–Herndon–Dudley syndrome, is a rare genetic disorder affecting thyroid hormone transport. It is characterised by severely debilitating neurodevelopmental and endocrinological impairments, further complicated by numerous diagnostic challenges. Here, we describe the clinical journey of a male infant from birth to MCT8 deficiency diagnosis at 23 months of age and 20 months of follow-up post diagnosis. The patient presented with hypotonia, abnormal thyroid hormone levels, epilepsy and failure to gain weight. A diagnosis of MCT8 deficiency was confirmed upon identifying a pathogenic variant in the <em>SLC16A2</em> gene, which encodes the MCT8 protein. The patient was initiated on 350 μg daily of tiratricol, escalated to 350 μg twice daily, and following intolerance during further escalation, the dose was maintained at 350 μg twice daily. With 11 months of treatment follow-up, the patient has shown promising signs of thyroid hormone normalization and improved weight gain. This case highlights the importance of early recognition and a well-coordinated multidisciplinary team spanning numerous specialisms to optimise outcomes for patients with MCT8 deficiency, while providing real-world data on the effects of tiratricol treatment.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"38 ","pages":"Article 100202"},"PeriodicalIF":0.0,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145416382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-08-25DOI: 10.1016/j.jecr.2025.100200
Srushti Shankar, Sumal S. Sundar, Madhumati S. Vaishnav, Leena Lekkala, Chandraprabha Siddalingappa, Kavitha Muniraj, Thummala Kamala, Reshma B. Vijay, Vasanthi Nath, Mandyam D. Chitra, Pushpa Ravikumar, Siddartha Dinesha, Tejeswini Deepak, Srikanta Sathyanarayana
Background/objective
Paraneoplastic endocrine metabolic syndromes are rare, but clinically significant manifestations of underlying malignancies, often complicating clinical course and impacting treatment outcomes.
Case presentation
Four different paraneoplastic syndromes manifested in an 81-year-old female with metastatic carcinoma rectum, presenting with generalized weakness, inability to walk, severe pain, and low-grade fever.
Discussion
Endocrine metabolic paraneoplastic syndromes can impact prognosis and even be confused as metastatic spread or another “non-existent” clinical entity. They can precede, occur concomitantly or present at later stage of tumour development.
Conclusion
Recognition of these diverse clinical manifestations improves clinical outcomes (earlier cancer diagnosis, better quality of life, optimal tumour-directed therapy or decision towards non-aggressive focussed palliative care).
{"title":"Clinical challenges of paraneoplastic endocrine metabolic syndromes: An illustrative example","authors":"Srushti Shankar, Sumal S. Sundar, Madhumati S. Vaishnav, Leena Lekkala, Chandraprabha Siddalingappa, Kavitha Muniraj, Thummala Kamala, Reshma B. Vijay, Vasanthi Nath, Mandyam D. Chitra, Pushpa Ravikumar, Siddartha Dinesha, Tejeswini Deepak, Srikanta Sathyanarayana","doi":"10.1016/j.jecr.2025.100200","DOIUrl":"10.1016/j.jecr.2025.100200","url":null,"abstract":"<div><h3>Background/objective</h3><div>Paraneoplastic endocrine metabolic syndromes are rare, but clinically significant manifestations of underlying malignancies, often complicating clinical course and impacting treatment outcomes.</div></div><div><h3>Case presentation</h3><div>Four different paraneoplastic syndromes manifested in an 81-year-old female with metastatic carcinoma rectum, presenting with generalized weakness, inability to walk, severe pain, and low-grade fever.</div></div><div><h3>Discussion</h3><div>Endocrine metabolic paraneoplastic syndromes can impact prognosis and even be confused as metastatic spread or another “non-existent” clinical entity. They can precede, occur concomitantly or present at later stage of tumour development.</div></div><div><h3>Conclusion</h3><div>Recognition of these diverse clinical manifestations improves clinical outcomes (earlier cancer diagnosis, better quality of life, optimal tumour-directed therapy or decision towards non-aggressive focussed palliative care).</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"38 ","pages":"Article 100200"},"PeriodicalIF":0.0,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144934289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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