JCEM Case Reports最新文献

{"title":"O-03 Adrenalectomy for Cushing's syndrome during pregnancy","authors":"Sezin Doğan Çakır, Orhan Yalcin, Mine Adas","doi":"10.1210/jcemcr/luad146.002","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.002","url":null,"abstract":"Abstract Introduction Cushing's syndrome (CS) is rare in pregnancy because CS itself is a cause of anovulatory infertility due to excess cortisol secretion. Moreover it is also difficult to diagnose CS in pregnancy because placental production of corticotropin releasing and adrenocorticotropic hormone (ACTH), increased maternal production of estrogen induced corticosteroid binding globulin leads to physiological hypercortisolism during pregnancy. So physicians face a clinical overlap in many features of CS such as weight gain, fatigue, edema, hypertension, hyperglycemia, stretch marks, mood changes that can also be attributed to pregnancy. Thus their coexistence represents a diagnostic challenge. Herein we report a case of CS that was diagnosed and successfully treated during pregnancy. Clinical Case A 43-year-old gravida 3 female was consulted at the 21st week of gestation with persistent high blood pressure and hyperglycemia for a month. She had an obstetric history of 2 spontaneous first term abortion, 2 healthy labor 18 years ago and she was healthy after. She was in such a depressive mood that she was consulted with psychiatry many times. On physical examination edema, proximal weakness of lower extremities and hirsutism (modified Ferriman–Gallwey score of 9) was detected. Initial laboratory tests were all within normal range except potassium level (2.7 mmol/L), the results were not consistent with preeclampsia and there was a suspicious adrenal mass detected on ultrasound. She was currently receiving high dose antihypertensive treatment with methyldopa, calcium channel blockers, rapid acting and detemir insulin for diabetes and i.v. potassium replacement. We ruled out conns syndrome with normal plasma aldosterone renin ratio and found catecholamine levels normal. Hormonal analyses revealed with high plasma cortisol levels, increased nocturnal cortisolemia, a suppressed plasma ACTH and dehydroepiandrosterone sulfate level and distinctly elevated 24-hour urinary cortisol greater than 3-fold the upper normal reference range. Non contrast magnetic resonance imaging demonstrated a 47×32 mm left adrenal mass. Laparoscopic adrenalectomy was performed in the 26th week of gestation and the following histopathology revealed an adrenocortical adenoma. Antihypertensive medication was progressively reduced, glycemic control and hypokalemia reversal were achieved. She was followed up with appropriate glucocorticoid replacement. At 34 weeks of gestation, after sudden labor pain and regular uterine contractions a 2586 g male infant with Apgar scores of 8 was born by cesarean section. They were discharged in good health. Conclusion CS should be kept in mind especially in the case of hypertension and diabetes that started before the 20th gestational age. Analysis of the urinary free cortisol level and circadian rhythm of cortisol is necessary to diagnose. Despite the diagnostic challenge we can achieve better maternal and fetal outcomes with proper managemen","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"7 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139457051","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}

{"title":"P-80 A rare case of papillary thyroid carcinoma within a mature cystic ovarian teratoma","authors":"Selin Tekin, U. Ünlütürk","doi":"10.1210/jcemcr/luad146.072","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.072","url":null,"abstract":"Abstract Introduction Mature teratoma is the most common ovarian germ cell neoplasm. Teratomas can contain various tissue groups, such as skin, hair, and thyroid tissue. Teratomas in which more than 50% of the tumor tissue is composed of thyroid tissue are defined as Struma Ovarii. Malignant transformation of Struma Ovarii has been reported at a rate of 0.5-5%, most commonly presenting as thyroid papillary and follicular carcinomas. Metastasis is observed in 5% of malignant cases. Clinical Case A 45-year-old female with a history of Hashimoto's thyroiditis presented in July 2022 with complaints of abdominal pain. Abdominal contrast-enhanced tomography revealed a hypo dense lesion 5 cm in diameter the right adnexal region, and in the magnetic resonance images 5 cm mass was observed in the right adnexal area. Serum Ca-125 level was 212 U/mL (0-35) at admission. Due to high suspicion of malignancy ovarian cystectomy has been performed. Pathology of specimen revealed a 0.5 cm thyroid papillary carcinoma with follicular variant in infiltrative features but no lymphovascular invasion. Subsequently, the patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy due to the unverifiable risk of malignancy. Pathological examination showed no malignancy. The patient presented to our clinic in June 2023, neck ultrasound revealed a 13×12 mm heterogeneous hypoechoic thyroid nodule with thick and thin septations and occasional internal vascularity in the left thyroid lobe. Fine-needle aspiration biopsy of the thyroid was performed, and cytology results were reported as benign. The serum thyroglobulin level was found to be 83.7 ng/mL. In terms of the treatment plan, BRAF and K-RAS gene analysis was planned based on the pathology preparations. The patient will be evaluated for total thyroidectomy/radioactive iodine ablation/no treatment based on the results. Follow-up is ongoing, and test results are awaited. Conclusion Malignant transformation of mature teratoma is rare and thyroid papillary carcinoma being the most frequently seen malignancy. There is no consensus on treatment and follow-up, but it is recommended to classify patients based on their risks and consider options such as total thyroidectomy/radioactive iodine ablation/no treatment for follow-up. Literature suggests the need for guidelines and treatment algorithms for the management of malignant struma ovarii. Some authors recommend whole-body iodine scanning in determining risk and follow-up, asserting that iodine-based treatment and follow-up methods would be meaningless without thyroidectomy. There is also an approach advocating for only salpingo-oophorectomy in low-risk patients and subsequent follow-up. Thus, a consensus on guidelines and treatment algorithms for malignant struma ovarii is needed.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"6 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139457096","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}

{"title":"P-66 Primary Thyroid Lymphoma mimicking Riedel Thyroiditis","authors":"Banu Betül Kocaman, S. Şahin, Serhat Uysal, Ilkin Muradov, L. Soltanova, Zehra Kara, Mehmet Umut Çapar, Mustafa Sait Gönen","doi":"10.1210/jcemcr/luad146.063","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.063","url":null,"abstract":"Abstract Introduction Although Riedel's thyroiditis and primary thyroid lymphoma are rare diseases of the thyroid, they should be considered in the differential diagnosis of patients presenting with a neck mass. We report here the case who was followed up with the diagnosis of Riedel's thyroiditis and later diagnosed with lymphoma. Clinical Case A 67-year-old female presented with swelling in the neck, pain and shortness of breath. Thyroid ultrasound demonstrated enlarged thyroid gland, heterogeneous parenchyma, irregular contours, thin septations and pseudonodule formations. Laboratory tests revealed, TSH 4.17 mIU/L, fT4 1.37 ng/dl, anti TPO 147 IU/mL, sedimentation 13mm/h, and CRP of 5.5 mg/dl. In neck CT, an 8*4 cm hypodense mass infiltrating both thyroid lobes, extending anteriorly and superiorly, surrounding the trachea by 270 degrees, was detected. Follicle cells were seen in the fine needle aspiration biopsy, but no neoplasm was found. In PET-CT, increased FDG uptake was detected in the thyroid parenchyma (SUVmax: 22.89) and in one subcentimetric lymph node (SUVmax: 3.5) in the right cervical region. No neoplasm was found in the tru-cut biopsy and the biopsy was reported as granulomatous thyroiditis. When her current complaints and physical examination findings were evaluated together, methylprednisolone was started, considering Riedel's thyroiditis. In the follow-up examination, the thyroid size of the patient decreased significantly and the steroid dose was reduced. The patient, who could not be followed up for a while, developed swelling and pain in the neck again, and was followed up in the ICU with acute respiratory failure, a tracheal stent was applied to the patient. The patient was then followed in the ward, with dyspnea, dysphagia and hoarseness continued, was admitted to our polyclinic again and was hospitalized. The patient stated that her oral intake decreased due to dysphagia and there was a loss of 40 kg. She had no fever or night sweats. She was not smoking. Physical examination revealed a hard, fixed mass that completely filled the right neck and reached the midline. In the endoscopic examination, the vocal cords were paralytic, the air passage was inadequate, and the mass was invading the trachea. Tracheostomy was applied to the patient. Trucut biopsy was taken from the thyroid tissue. In addition, PET-CT was taken. On PET-CT, right thyroid dimensions showed significant morphological progression compared to the previous study, very dense at similar levels (previous SUVmax: 22.89,current SUVmax: 22.76);intense FDG uptake was detected in 8 mm lymph nodes in the left cervical and 19×20 mm lymph nodes in the right supraclavicular (SUVmax 22.17) region.Diffuse Large B-Cell Lymphoma was detected as a result of thyroid biopsy and R-CHOP treatment was started on the patient. She was discharged after 2 cycles of chemotherapy (Figure). The diagnosis of both Riedel's thyroiditis and primary thyroid lymphoma are histopathological. The","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"13 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139457423","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}

{"title":"P-70 Angelman syndrome associated with congenital hypothyroidism and corticotropic insufficiency","authors":"Mohammed El Amine Amani","doi":"10.1210/jcemcr/luad146.066","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.066","url":null,"abstract":"Abstract Introduction Angelman syndrome is a rare neurogenetic disorder by mutation similar to that of Prader-Willi syndrome but of different parental origin. Its association with hypothyroidism is rarely reported in the literature Clinical Case We report the case of a 22-month-old infant, followed in neuropediatrics for genetically proven Angelman syndrome and referred to our department for congenital hypothyroidism. Explorations were in favor of an anomaly of hormone synthesis. Hormonal assessment had also revealed corticotropic insufficiency with a small hyophysis on magnetic resonance imaging. The evolution was marked by stability under hydrocortisone and levothyroxine Conclusion A single case of association of hypothyroidism and Angelman syndrome has been reported in the literature without a suggested mechanism. In the current state of our knowledge, no association of Angelman syndrome, hypothyroidism and corticotropic insufficiency has been described, making our observation the first to present these three pathologies. The simple association is plausible in our case but the possible description of similar situations in the future would support the hypothesis of a causal relationship.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"124 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139453673","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}

{"title":"O-17 A case of severe and recurrent hypoglycaemia in a healthy patient","authors":"I. Samperi, Chiara Bima, Piero Radaelli, Mara Steffanini, Agnese Persichetti, Renato Cozzi, Roberto Attanasio, Maria Chantal Ponziani","doi":"10.1210/jcemcr/luad146.046","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.046","url":null,"abstract":"Abstract Introduction Hypoglycaemia is a challenging condition for the endocrinologist. Clinical Case A 75 y/o man was admitted to ER due to severe symptoms of hypoglycaemia (weakness, blurring and sweating). His symptoms improved after eating some food and blood glucose was 50 mg/dL. He was treated with oral glucose and referred to our endocrinology clinic. His personal and family history was uneventful (no endocrine, autoimmune or neoplastic disease, no drug) and he did not complain any other symptoms besides hypoglycaemic ones. When going deeply into his medical history, he reported that back pain had occurred 4 weeks before ER access. His GP had thus prescribed supplements containing alpha lipoic acid (ALA) that he had assumed for 3 weeks and then discontinued for the lack of any benefit. He regarded this information as useless as ALA was “just a supplement”. Furthermore, he reported symptoms as shaking, anxiety, dizziness, sweating, and hunger that occurred 5-7 times per day far from meals and faded after eating. A diet was prescribed with frequent eatings, high content of fibers and whole foods. He started flash glucose monitoring (FGM) with the alarm for hypoglycaemia set at 70 mg/dL and was trained for the management of hypoglycaemia. The laboratory alerted us due to the results of oral glucose tolerance test (Table 1). Hypoglycaemic episodes after the test were neither reported nor registered by FGM. The differential diagnosis was among insulinoma, insulin resistance or insulin autoimmune syndrome (Hirata disease). The calculated molar ratio of insulin to C-peptide was 2.68, thus pointing to Hirata disease (to be suspected when the ratio is >1). We opted for watchful waiting while continuing the monitoring. Two weeks later the pending results became available: TSH 1.69 mU/L, HbA1c 5.2%, serum cortisol 14.8 μg/dL, ACTH 18.2 pg/mL, anti-endogenous insulin antibodies 5.8 U/ml (nv <2.4), normal values of transaminases, lipase, and amylase. The patient reported adherence to the diet, two symptomatic hypoglycaemias (in the afternoon, when he couldn't have the snack) as well as asymptomatic FGM alarms once daily, usually early in the morning. We advised to add a snack before bedtime to shorten the fasting period. At the 3-month follow-up he had had no further hypoglycaemias, blood glucose was normal and anti-endogenous insulin antibodies were negative. Conclusion Hypoglycaemia can be a life-threatening condition and differential diagnosis is crucial. It is important to consider even rare conditions, such as Hirata syndrome that can be triggered by several factors and medications, the most common being ALA. Complete medical history is mandatory and tight follow-up essential. Most cases, as the one reported, resolve with a correct diet after the withdrawal of supplements.Table 1. Oral Glucose Tolerance Test","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"123 47","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139453690","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}

{"title":"P-04 Adrenocortical carcinoma case with long-term follow-up","authors":"Birsen Ozturk Gokce, G. Yorulmaz, M. Kebapçı, Elif Seray Kavak Korkmaz","doi":"10.1210/jcemcr/luad146.007","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.007","url":null,"abstract":"Abstract Description Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine malignancy with an incidence of 0.7–2.0 cases/million/year. We present a case of ACC that we followed for a long period of approximately 5.5 years. Clinical Case A 50-year-old female patient was referred to our hospital because of a left adrenal mass. She had no complaints except left flank pain. There were no features on her resume. There were no findings related to hypercortisolemia on physical examination. Hormone levels were examined (Table 1). In the upper abdomen tomography, a 9×13×10.8 cm sized, sharply defined, lobulated contoured, heterogeneous-enhancing mass lesion with central cystic components was observed in the left adrenal region (Figure 1). The patient underwent left adrenalectomy and left partial nephrectomy. Pathology was reported as adrenocortical carcinoma. Weis score was 6/9, and the Ki-67 index was 15-20%. She was evaluated as a stage 2 disease according to ENSAT staging and followed up with thoracoabdominal CT. A 30*15 mm recurrent mass lesion was detected in the first-year postoperative follow-up. The patient underwent implant excision, left nephrectomy, and left paraaortic lymphadenectomy. Then the patient was given 6 cycles of Cisplatin-Etoposide-Adriamycin chemotherapy. On follow-up imaging after chemotherapy, a mass of approximately 13 mm in diameter was detected adjacent to the small intestine. Bridectomy and malignant soft tissue resection were performed on the patient. Mitotane treatment was started after the operation. After 6 weeks, the target mitotane level was reached. The patient was followed closely for glucocorticoid needs. Oral hydrocortisone treatment was started in the patient who complained of fatigue and nausea in the 8th month of mitotan. Since there was no hyponatremia/hyperkalemia and clinically no hypotension/orthostatic hypotension, mineralocorticoid therapy was not initiated. While under mitotane treatment, liver function tests, thyroid function tests, complete blood count and lipid parameters were evaluated intermittently. She was hospitalized 4 times in total with the clinic of infection and adrenal insufficiency. At that time, mitotane treatment was interrupted and parenteral steroid treatment was started. The patient received 4.5 years of mitotane therapy. No recurrence was detected in the follow-up scans during mitotane treatment and 6 months after the treatment was discontinued. PET-CT imaging was performed in the 1st year while the patient was in the follow-up without treatment. In the retroperitoneal region, 38×21 mm focal increased activity involvement was observed (SUV Max: 17.82). Left hemicolectomy operation was performed on the patient and chemotherapy was planned. Conclusion In conclusion, we presented a case that we followed for a long time without recurrence under mitotane treatment. It can be thought that mitotane treatment keeps ACC disease under control. Figure 1. 9×13×10.8 cm left adrenal mass","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"77 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139454443","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}

{"title":"P-33 A rare form of diabetes: MELAS","authors":"Seçkin Akçay, Ece Kapan, D. Yavuz","doi":"10.1210/jcemcr/luad146.036","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.036","url":null,"abstract":"Abstract Introduction MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a fatal multisystemic condition caused by a mitochondrial DNA mutation, the most prevalent is m.3243AAG. Diagnosis is common at a young age,and individuals with late diagnosis due to comorbidities have a shorter life expectancy. It causes dementia, epilepsy, myopathy, hearing loss, diabetes, and growth retardation. We present a patient with MELAS who was diagnosed late since it is a rare manifestation of diabetes with a different treatment than regular diabetes. Clinical Case A fifty-year-old female patient requested regulation of her blood sugar. She had type 2 diabetes for 20 years and hypertension, hyperlipidemia; she had a coronary bypass surgery three years ago and had been using a hearing implant for one year. She is under insulin treatment since 2018. Her 13-year-old daughter was just diagnosed with MELAS due to growth and development delays, and the m.3243AG mutation was discovered. She also screened for MELAS and found heteroplasmic m.3243A<G mutation. Her height was 143 cm, weight was 38 kg and BMI was 18.5 kg/m2. The patient was oriented and cooperative, but reluctant to answer questions. Her speech was slow, she was partial numbness, and she was not open to communication due to hearing loss, questions were always answered by her daughter. She exhibited a poor memory and calculation functions. She had muscle weakness in both extremities with a proximal muscles strength level of 3 and also described exercise intolerance. The patient did not have any seizures. She described a loss of hearing in the left ear and very poor hearing in the right ear. She had attacks of a migraine-like headache in left side of head and palpitation. Her medications included insulin glargine 1×22 units, insulin glulisine 3×8 units, coenzyme Q10 2×100 mg, arginine 3×2.5 grams, ranolazine 375 mg, perindopril 5 mg, sprinolactone 25 mg, metoprolol 50 mg, and rosuvastatin 20 mg. While Hba1c was 10.4 µg/dl, there were postprandial hyperglycemias with the highest 372 mg/dl and fasting hypoglycemias with the lowest 55 mg/dl in blood sugar follow-ups. The patient's treatment was arranged as 2×15 units of insulin degludec aspart and 1×8 units of insulin glulisine before lunch. Linagliptin was preferred instead of the weight-loss GLP-1 agonist to reduce mitochondrial stress in the patient with low BMI. Diabetic oral nutrition therapy was recommended to the malnourished patient. For cardiac evaluation, echocardiography and rhythm holter were requested. The patient was referred to the dementia outpatient clinic for memory and poor higher neurological function. Our patient had late diagnosis of MELAS with multiple complications including sensorineural deafness, a short stature and neurologic manifestations. Considering MELAS in diabetic patients with hearing loss, neurodegenerative findings, low body mass index and intolerant of metformin will significantly reduce the mor","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"61 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139455050","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}

{"title":"O-10 Lymph node ACTH washout determined the source of ACTH secretion in a patient with Cushing's Syndrome due to medullary thyroid cancer","authors":"Alperen Onur İşler, Suleyman Nahit Sendur, Burçin Gönül İremli, U. Ünlütürk, Ömer Cennet, Ahmet Bülent Doğrul, Alper Gürlek","doi":"10.1210/jcemcr/luad146.060","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.060","url":null,"abstract":"Abstract Introduction Ectopic ACTH syndrome constitutes 18% of Cushing's syndrome cases, and in rare cases, ACTH secretion from medullary thyroid cancer cells is the source of ectopic ACTH production. Here we report a catastrophic Cushing's syndrome case owing to medullary thyroid cancer in which the source of ACTH production was demonstrated by lymph node ACTH washout. Clinical Case A 23 year-old male was admitted to other clinics with complaints of inability to lose weight despite diet and exercise, and weight gain of approximately 40 kg, which had been going on for the last two years. At his application, his weight was 160 kg and his body mass index was 42.51 kg/m2. On physical examination, clinical stigmata suggesting Cushing's syndrome such as moon face, buffalo hump, supraclavicular fat deposition, acanthosis nigricans, centripedal obesity, purple striae on the abdomen were noted. The biochemical and hormonal evaluation confirmed ACTH-dependent Cushing's syndrome (Table 1). To establish the source of excess ACTH, first, a pituitary MRI was performed which revealed a 4×2 mm adenoma on the left side of the gland. In PET-CT, a 24×20 mm hypoechoic nodule in the inferior of the right thyroid lobe, and several pathological lymph nodes at the right side of the neck were detected. Serum calcitonin levels were high (6528 ng/L) and fine-needle aspiration biopsy from the thyroid nodule documented medullary thyroid cancer. The patient underwent bilateral total thyroidectomy and right cervical lymph node dissection. The pathology report was compatible with metastatic medullary thyroid cancer. After surgery, the remission of hypercortisolemia was not achieved and the patient was started on metyrapone treatment before the permanent treatment plan. Postoperative Gallium-68 DOTA PET-CT indicated residual disease and increased uptake in retropharyngeal, bilateral cervical level 2-4, right level 3, bilateral central, and bilateral lower cervical lymph nodes. The persistence of hypercortisolemia after surgery was most likely attributed to residual disease, however, it was considered that pituitary adenoma may also be the cause of ACTH secretion. Therefore, to confirm the source of ACTH secretion, ACTH washout samples were taken from the cervical lymph nodes and were found to be high as 958 ng/L. Reoperation was performed for recurrent mass and lymph node metastases. Conclusion Medullary thyroid cancer should definitely be considered in cases of ectopic ACTH syndrome. ACTH washing from the suspected lymph node may be an option for diagnostic purposes. In addition to the patient's primary tumor, hypercortisolism should also be treated.Table 1. Cushing's assessment tests","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"35 47","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139455654","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}

{"title":"P-24 Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci Ricci disease: Triad of rare diseases","authors":"Hamza Elfekih, Molka Ben Bnina, Fatma Ben Abdessalem, Asma Gorchene, Koussay Ach, Yosra Hasni, Molka Chaieb","doi":"10.1210/jcemcr/luad146.029","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.029","url":null,"abstract":"Abstract Introduction Type 1 diabetes mellitus (T1DM) is known to be associated with other autoimmune diseases. Nevertheless, medical conditions can coexist in unexpected ways. Such is the case of a rare and fascinating occurrence, where a patient was diagnosed with T1DM, Gitelman syndrome and Cacci Ricci disease. Clinical Case A 27-year-old male patient was suspected to have Gitelman syndrome at the age of 3 years in the presence of tetany crisis, abdominal pain and severe hypokalemia at 1,4 mmol/L. The diagnosis was confirmed by genetic testing highlighting a mutation in the SLC12A3 gene that codes for the sodium-chloride cotransporter. Abdominal pain disappeared after potassium and magnesium supplementation and the repercussion of Gitelman's syndrome was growth retardation. Diabetic ketoacidosis decompensation due to T1DM was developed. He had poor glycemic control although intensified insulin protocol. Cacci Ricci's disease was revealed by terminal hematuria. Abdomino-pelvic CT-scan objectified precalicial canalicular ectasia with bilateral nephrocalcinosis and about twenty non obstructing bilateral micro-nephrolithiasis. Serum calcium, phosphorus and PTH levels were in the normal range. Conclusion The coexistence of T1DM, Gitelman syndrome, and Cacci Ricci disease in the same patient remains a fascinating medical mystery. Abnormalities in certain ion channels and transporters could affect multiple systems leading to the manifestation of seemingly unrelated conditions in a single patient. As research continues, healthcare professionals hope to gain a better understanding of the underlying mechanisms and develop more effective treatment strategies for these rare and complex cases.","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"30 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139455871","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}

{"title":"P-15 A rare case of Trichorhinophalangeal Syndrome Type I","authors":"Can Akçura, Samet Alkan, Sedat Can Güney, A. Aykut, A. Durmaz, Nilüfer Özdemir, Z. Hekimsoy","doi":"10.1210/jcemcr/luad146.019","DOIUrl":"https://doi.org/10.1210/jcemcr/luad146.019","url":null,"abstract":"Abstract Introduction Trichorhinopharyngeal syndrome (TRPS) type 1 is a rare autosomal dominant genetic disorder due to defects of the TRPS1 gene. Clinical findings include short stature, fine hair, craniofacial and skeletal malformations, and deformities in phalangeal joints. This rare disease has a wide clinical spectrum and careful investigation on suspected cases should be made. Clinical Case A 19-year-old female patient, after application to the rheumatology clinic of our center with hand deformities, was referred to our endocrinology clinic after initial examination revealed no rheumatologic disorder; with a pre-diagnosis of a possible bone mineral disorder. She had no co-morbid disease, but her history revealed admissions to a pediatric endocrinology unit and investigations of a possible mucopolysaccharidosis, though no diagnosis had been made. There was no kinship between her parents. In her physical examination, she had fine hair, the fifth metacarpal bone of her right hand was short, she had palpable bone cysts on both of her third phalanges, and a high palatal arch. She had a short stature of 149 cm. From her history, it was learned that none of her relatives showed similar phenotypic properties. Her laboratory findings, listed in Table 1, showed no definitive defect other than a mild vitamin D deficit. The X-ray of her hands (Figure 1) showed shortening of the right fifth metacarpal bone. Her bone mineral density scan was normal. From this point, due to her clinical and radiological findings, a possible diagnosis of pseudo-pseudohypoparathyroidism was assumed, and the patient was referred to the department of genetics. The result of the genetic analysis revealed a heterozygous c.2894G>A (p.Arg965His) variant in the TRPS1 (NM_014112/5) gene. As a result, the patient was diagnosed with trichorhinophalangeal syndrome type 1, and was referred to the department of physical medicine and rehabilitation for physiotheraphy program for her hand deformities and possible future deformities in the skeletal system. Because the disease has an autosomal dominant inheritance, she was also informed about genetic consultancy for her possible future conception. Conclusion Trichorhinophalangeal syndrome type 1 is a rare disease and can mimic a variety of disorders including pseudo-pseudohypoparathyroidism, rheumatoid arthritis and other rheumatological diseases. Though there is no definite treatment, suspected cases should be evaluated both clinically and genetically to avoid misdiagnosis. Financial disclosures: None Funding resources: NoneFigure 1. X-ray of the patient's hands Arrow shows shortening of the right fifth metacarpal bone Table 1. Laboratory findings of the patient ALT: alanine aminotransferase, ALP: alkaline phosphatase, PTH: parathormone","PeriodicalId":510224,"journal":{"name":"JCEM Case Reports","volume":"6 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139456239","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}