bluuebunny/crossref_metadata_2025_split huggingface dataset:
Primary hyperparathyroidism and skull bone: Dicle sign
Authors: Pekkolay Zafer , Tuzcu Alpaslan Kemal 
Published: January 2023

Abstract

Introduction
In primary hyperparathyroidism, a brown tumor may be seen due to excessive osteoclastic activity. We will share the unusual localization of this tumor-like formation that primarily affects the lower and upper extremities.

Clinical Case
A 20-year-old female patient presented with complaints of weakness, headache, bone pain, and difficulty walking. He had a history of surgery for a pathological femur fracture in the past. In the evaluation, a diagnosis of primary hyperparathyroidism due to ectopic parathyroid adenoma was made. Brown tumor-like formations were also observed in the skull bone in the cranial tomography taken due to severe headache. An adenomectomy was performed on the patient whose parathyroid adenoma localization was detected in the scintigraphic examination. The patient, who developed post-operative hungry bone syndrome, was discharged approximately one month later due to the need for intravenous calcium. It lasted about one year after the patient's oral calcitriol and calcium treatment. She was followed up without treatment. At her last follow-up in June 2022, calcium, phosphorus, and parathormone levels were normal. The patient had no complaints.

Conclusion
Brown tumor is often seen in the bones of the hands, feet, and long bones. We detected it for the first time in the skull bone.
A rare disease: Familial hyperphosphatemic tumoral calcinosis
Authors: Akçay Seçkin , Dashdamirova Saida , Gözü Hülya 
Published: January 2023

Abstract

Introduction
Tumoral calcinosis (TC) is a rare disease characterized by soft tissue calcification as a result of repetitive trauma and prolonged pressure in periarticular areas of large joints; such as hip, knee, shoulder and elbow. There are three different forms; sporadic, familial and secondary TC due to chronic renal diseases, vitamin D hypervitaminosis. Familial hyperphosphatemic TC, which will be presented in this case, causes by relative deficiency or resistance of FGF-23, which is the critical regulatory hormone in the phosphorus metabolism.

Clinical Case
A 38-year-old male patient was referred from the nephrology department for hyperphosphatemia. He underwent 14 operations mass lesions, which were painful, progressively enlarging, in the different regions. His first operation at the age of 11 for a lesion in the right knee. Pathologic diagnoses of surgical specimens were reported as tumoral calcinosis. The patient was followed up by different orthopedic clinics from the age of 11, and was operated as new masses appeared. He does not have any complaints other than the pain in the periods when the lesions appear. He has 4 siblings without any known diseases, and his parents were third degree consanguineous. In physical examination, blood pressure was 115/72 mmHg, pulse was 76/min, and temperature was 36.7°C. Her height was 183 cm, and weight was 82 kg, BMI: 24.5 kg/m2. In laboratory tests, serum calcium 10.1 mg/dl, serum phosphate 6,8 mg/dl, parathormone 25 pg/ml, 25-OH Vitamin D 19 ng/ml, creatinine 0.9 mg/dl, alkaline phosphatase 71 U/l, 24-h urinary calcium 129 mg/day and 24-h urinary phosphate 205 mg/day. Bone mineral density at the femoral neck was 1.258 g/cm2, Z score was -1.6, and BMD at the lumbar spine was 1.081 g/cm2, Z score was -0.9. In bone survey, we detected that mild right-facing rotoscoliosis in the thoracolumbar region, increased calcification of the costosternal cartilages, osteophytic tapering in the thoracic region, intracranial calcification in the parietal region, L3-L4 level syndesmophyte, irregularity and adjacent soft tissue calcification at the distal phalanx level of the first toe of the right and left foot (Fig 1). We recommended the patient to avoid trauma and a low phosphorus diet. Maintenance dose vitamin D replacement and phosphorus-binding treatment (calcium-asetate 700 mg 3×2) with meals were started. When phosphate reduction could not be achieved, sevalemer 800 mg 3×3 was added with gradually increasing, phosphorus level dropped to 5.2 mg/dl. Genetic analysis revealed GALNT3 homozygous mutation. Genetic counseling and eye examination were recommended.

Conclusion
TC should also be considered in patients with a history of multiple surgery due to soft tissue masses, especially in the presence of hyperphosphatemia. In our case, a mutation was detected at a rather late age, and phosphorus-lowering therapy was started at the age of 38 years and genetic counseling should be offered to these patients at an early age.
A case of malign insulinoma diagnosed with liver metastasis
Authors: Şehit Kara Canan , Ilik Abdullah , Öztürk Figen , Abdulrezzak Ümmühan , Ibrahim Karahan Ökkeş , Sözüer Erdoğan , Bayram Fahri 
Published: January 2023

Abstract

Introduction
Insulinoma is a rare neuroendocrine tumor originating from pancreatic beta cells and is the most common cause of hyperinsulinemic hypoglycemia. Herein, a rare case of metastatic insulinoma in which many treatment alternatives were used will be presented.

Clinical Case
A 52-year-old male patient with no known history of chronic disease applied to us with complaints of numbness in the hands, inability to wake up in the morning and fainting. The patient, who worked as a professional referee, stated that he went to football matches with sugar in his pocket and ate sugar when he felt bad during the football matches. The patient needed to eat many times during the day. It was learned that the patient was treated with the diagnosis of transient ischemic attack and vertigo in another hospital where he applied with these complaints. In our hospital, random glucose was determined as 30 mg/dl. Prolonged fasting test was performed. Plasma glucose: 28 md/dl, insülin: 30,81 Uıu/ml, c-peptid 6,17 ng/ml were measured at 6th hour of the test. In abdominal computarized tomography, a 6.5×9.5 cm mass in the tail section of the pancreas and a subcentimetric metastatic nodular lesion in liver were detected. The patient diagnosed with metastatic insulinoma and distal pancreatectomy and liver metastasectomy operations were performed. Pathological examination showed insulinoma in the pancreas and neuroendocrine tumor metastasis in the liver (figure 1). No hypoglycemia was seen after operation. In the postoperative 24th month, fasting plasma glucose: 176 mg/dl and HBA1c: 8.6 were found and diabetes mellitus was diagnosed, insulin detemir was started. At the postoperative 36th month, a metastatic nodular lesion was detected in the liver. Fine needle aspiration biopsy was performed and in pathological examination, neuroendocrine carcinoma metastasis is seen. Octreotide LAR 20 mg/month treatment was started. In the follow-up, another metastasis was detected in two separate foci in liver so, patient's treatment was changed to lanreotide 120 mg/month. Four sessions of radiofrequency ablation were performed to the metastatic liver lesions. The patient is still being followed up by us and has no complaints of hypoglycemia. Plasma glucose values are in the normal range and Hba1c varies between 7.1–7.6%.

Conclusion
Although insulinoma cases are mostly benign, metastatic cases can also be seen rarely. The main treatment of the disease is surgery. Somatostatin analogues can be used in postoperative recurrence or inoperable metastatic disease. Radiofrequency ablation has an important role in local treatment.
Successful use of liraglutide in a female patient with type 1 Gaucher disease, type 2 diabetes mellitus and obesity
Authors: Topaloğlu Ömercan , Ayhan Ihsan , Tekin Sakin , Arık Mina , Bayraktaroğlu Taner 
Published: January 2023

Abstract

Introduction
Gaucher disease is a rare lysosomal storage disease, and caused by a mutation in the GBA1 gene with an autosomal recessive inheritance. Type 1 nonneuronopathic form is the most common form of the disease which commonly presents with painless splenomegaly, anemia, or thrombocytopenia, chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures. Type 2 and type 3 Gaucher disease may be associated with neurological abnormalities. Weight gain or the development of type 2 diabetes mellitus (T2D) was associated with Gaucher disease under enzyme replacement therapy in a few studies in the literature. In this case, we aimed to show the successful use of liraglutide in the management obesity in a patient with type 1 Gaucher disease and T2D.

Clinical Case
A 41-year-old female patient was presented with weight gain. The patient had a history of type 1 Gaucher disease for 20 years ago, T2D for 10 months, and primary hyperparathyroidism for 1 month. She underwent splenectomy at 4-year-old, and partial hepatectomy 1 year ago. She had been taking imiglucerase 60 IU/kg every 15 days, metformin 1000 mg 2×1/day, and duloxetine 60 mg/day. No history of smoking or alcohol use was present. Maternal history revealed also T2D. On physical examination, height was 153 cm, body weight 72.8 kg, body mass index 31.1 kg/m2. Vital signs and systemic examination findings were unremarkable with the exception of central obesity. Laboratory evaluation revealed that fasting blood glucose level was 120 mg/dL, HbA1c 6.6%, ALT 81 U/L, AST 53 U/L, and creatinine 0.8 mg/dL. Abdominal sonography revealed grade 2 hepatosteatosis and hepatomegaly with a diameter of 160 mm, but no cholelithiasis or pancreatic mass. Based on history, physical examination and work-up, no contraindications were detected for GLP1 receptor agonist therapy. Liraglutide (3.0 mg/day subcutaneous) was prescribed. It was initiated with a low dose (0.6 mg/day), and the dose was increased gradually. In the follow-up, the patient lost 3.5 kg (at about 4.8%), and BMI was decreased to 29.6 kg/m2 one month later. HbA1c level was measured as 6.3%, ALT 41 U/L, AST 33 U/L, and creatinine 0.8 mg/dL. The patient did not complain any side effect which might be potentially associated with Liraglutide.

Conclusion
With the successful use of liraglutide in a patient with a diagnosis of Gaucher, both weight control was achieved and liver function tests secondary to hepatosteatosis and perhaps gaucher's disease were improved. Our patient has an important feature with liraglutide being used for the first time in Gaucher's disease in the literature. In conclusion, liraglutide can be safely used in Gaucher patients for control obesity and especially in patients with hepatic dysfunction due to central adiposity.
Beneficial outcomes of glucagon like peptide-1 agonist therapy in a patient with Bardet Biedl syndrome and kidney transplant
Authors: Erturk Banu , Oguz Seda Hanife , Yildiz Bulent Okan 
Published: January 2023

Abstract

Introduction
Bardet Biedl syndrome (BBS) is a rare hereditary disorder characterized by early-onset obesity, metabolic syndrome, type 2 diabetes, hypogonadism, polydactyly and renal failure. There is lack of data on the use of glucagon-like peptide-1 receptor agonist (GLP-1RA) for management of patients with BBS and kidney transplant. Herein, we report our findings on body weight, graft kidney function and metabolic parameters in a patient with BBS and kidney transplant.

Clinical Case
A 35-year-old man with BBS was referred to our clinic for morbid obesity, diabetes and dyslipidemia. He also had retinitis pigmentosa, acanthosis nigricans, hypertension and hypogonadotropic hypogonadism, but no polydactyly. Due to polycystic kidney disease, the patient underwent cadaveric kidney transplantation ten years ago. He quickly gained weight after starting glucocorticoids following the kidney transplant. Current medical treatment consisted of metformin 1000 mg BID, testosterone 250 mg injection every three weeks, amlodipine 5 mg daily, mycophenolate mofetil 500 mg BID, and cyclosporin 25 mg BID. His body mass index (BMI) was 45 kg/m2, body fat percentage was 41%, waist and hip circumferences were 120 and 125 cm, respectively. On laboratory examination, his fasting plasma glucose and glycated hemoglobin (HbA1c) levels were 140 mg/dL and 7.8%, respectively. A low-density lipoprotein level of 178 mg/dL, a high-density lipoprotein level of 45 mg/dL, and a triglyceride level of 200 mg/dL were found in the lipid profile. His serum creatinine and estimated glomerular filtration rate (eGFR) were 1.9 mg/dL and 66.3 mL/min/1.73 m2, respectively. The initial treatment strategy was lifestyle changes and dietary management which did not result in significant weight loss after 6 months. Following a thorough discussion on medical treatment options with the patient, exenatide was started considering obesity, diabetes and patient preference for affordability. Initial dose of 5 mcg BID was gradually titrated up to 10 mcg BID, with frequent monitoring of his kidney function tests. Over a 6-month period, exenatide treatment resulted in significant weight loss, with a reduction in BMI to 40 kg/m2, body fat percentage to 35%, waist and hip circumferences to 114 and 120 cm, respectively. HbA1c decreased from 7.8% to 6.2%, and eGFR increased from 66.3% to 84.2%. His hypertension, dyslipidemia, and urinary protein: creatinine ratio also significantly improved. He has maintained his weight and glycemic control during further follow up of 10 months.

Conclusion
Weight management in BBS could be challenging, and kidney transplantation may make it even more difficult. Here we show that GLP-1RA use results in significant weight loss along with improvements in glycemic control, metabolic parameters, and renal function in a patient with BBS and kidney transplant. More data are needed to confirm long term efficacy and safety of GLP-1RA in these patients.
Skin tags are all over the body
Authors: Pekkolay Zafer , Akkum Aylin 
Published: January 2023

Abstract

Introduction
Skin tags are reflections of insulin resistance on the skin. It is generally observed in the head and neck region.

Clinical Case
A fifty-year-old male patient was admitted to the outpatient clinic due to obesity. He complained of not being able to lose weight despite diet and exercise. The patient's weight was 163,8 kg, height 175 cm, and BMI 53.5. Widespread skin tags on the patient's neck and whole body were remarkable. There were prominent acanthosis nigricans in the neck and axilla. The patient had been receiving treatment for Type 2 Diabetes Mellitus for eight years. He was using metformin 2000 mg/day, gliclazide 30 mg/day and pioglitazone 30 mg/day. Fasting insulin level was 15.46 mU/L, fasting glucose level was 165 mg/dL, HbA1c was 9.6%, and HOMA-IR was 6.29. In addition to the treatment he received, lifestyle changes (exercise, healthy diet) were recommended to the patient, and orlistat 360 mg/day was started.

Conclusion
Skin tags are mostly seen on the neck and nape. It was observed widely throughout the body in our patient.
Xanthomatous sypophysitis secondary to a ruptured Rathke's cleft cyst
Authors: Gezer Emre , Çabuk Burak , Yaprak Bayrak Büşra , Cantürk Zeynep , Çetinarslan Berrin , Selek Alev , Sözen Mehmet , Köksalan Damla , Ceylan Savaş 
Published: January 2023

Abstract

Introduction
Hypophysitis (HP) is a rare disease which develops secondary to chronic or acute inflammation of the pituitary gland and may cause symptoms related to pituitary dysfunction and mass compression. HP can be classified based on the anatomical location of pituitary involvement (adenohypophysitis, infundibulo-neurohypophysitis, or panhypophysitis), the etiology (primary or secondary), and the histopathology (lymphocytic, granulomatous, xanthomatous, IgG4, necrotizing, or mixed forms). Lymphocytic HP is the most common subtype of primary HP, while xanthomatous HP (XHP) is considered the rarest form, with 35 reported cases, to date. In our report, we describe a case with panhypopituitarism due to XHP secondary to the rupture of an Rathke's cleft cyst (RCC).

Clinical Case
A 35-year-old woman was initially admitted to a Gynecology clinic with a 2-year history of amenorrhea and headache. She was started on cabergoline 0.5 mg twice a week for macroprolactinoma. Due to persistent amenorrhea with low gonadotropins, she was referred to our Endocrinology clinic. Her pituitary function profile revealed panhypopituitarism (Table 1) and a 13×11×12 mm sized sellar mass with diffuse enhancement which sustained toward the infundibulum and dura was observed on the gadolinium-enhanced pituitary MRI. The patient underwent an endoscopic endonasal transsphenoidal approach for tumor resection and thick yellowish fluid draining from the lesion was observed (Figure 1). The histopathological diagnosis was reported as a rupture of an Rathke's cleft cyst and a xanthomatous hypophysitis. The surgery did not improve the symptoms/pituitary functions, however, headache recovered immediately after the first dose of high dose methylprednisolone treatment.

Conclusion
The exact mechanism by which XHP occurs still remains unclear. The development of the characteristic histopathological lesion which consists of lipid-laden “foamy” histiocytes and CD68 positive macrophages has been previously attributed to the extension of an autoimmune/lymphocytic spectrum. On the other hand, various recent case presentations have reported to consider the inflammatory process of XHP related to the rupture of a RCC.
XHP is an uncommon inflammatory process of the pituitary gland which should be included in the differential diagnoses, if a patient presents with headache, panhypopituitarism and if yellowish fluid is drained from a cystic lesion intraoperatively. In agreement with the recent reports, our case presentation may also indicate a recommendation to classify XHP as secondary hypophysitis which could be caused by a ruptured cystic lesion. Here, we present a patient with XHP which developed as an inflammatory response to a ruptured RCC and the transsphenoidal surgery did not improve the symptoms/pituitary functions, while headache recovered immediately after the first dose of high dose methylprednisolone treatment.
Gastrointestinal carcinoma first presenting as pituitary mass: recognition of a rare case and multidisciplinary approach for the management of pituitary metastases
Authors: Costanza Flavia , Chiloiro Sabrina , Giampietro Antonella , Pontecorvi Alfredo , De Marinis Laura , Bianchi Antonio 
Published: January 2023

Abstract

Introduction
PMs (pituitary metastases) are rare and only a few cases are reported in the literature. In half of the documented cases, PMs originate from breast and lung cancers, rarely from other sites. They can grow rapidly and present local invasiveness, leading to acute onset of neurological symptoms, such as headache, visual and oculomotor disturbances, or endocrinological signs, such as diabetes insipidus and hypopituitarism. Their rarity and the lack of specific clinical and radiological features often impede their differentiation from other more common sellar area lesions, particularly when history of malignancy is absent. As PMs can be life-threatening, they must be recognized and treated promptly. Management of PMs may also be difficult because the prognosis depends on the course of the primary neoplasm. The case presented below is one of the few documented cases in the world of a pituitary metastasis from a primary gastrointestinal carcinoma.

Clinical Case
A 76-year-old woman, with no history of malignancy, presented with headache, dizziness and diplopia. Neurologic examination was remarkable for complete left ophthalmoplegia associated with sensitivity deficit in the left half face. Radiologic investigations documented a voluminous sellar and suprasellar formation, with extension in the ipsilateral cavernous sinus, compressing the optic chiasm and ipsilateral temporal lobe. The mass appeared heterogeneous as component of apoplectic infarction. Left cavernous sinus syndrome in apoplectic macroadenoma was diagnosed. Surgical removal of the lesion was performed through a transsphenoidal endoscopic endonasal approach. The histological exam disclosed a metastasis of adenocarcinoma with widespread necrotic-haemorrhagic elements. The immunohistochemical profile suggested an origin from a primary gastrointestinal carcinoma. Hormone replacement therapy and adjuvant therapy were instituted, although radiological investigations failed to identify the site of the primary gastrointestinal carcinoma. Postoperative MRI showed a parasellar residual tumor, which was radiologically stable at 6-month follow-up. The patient will undergo a radiotherapy and neurosurgical evaluation.

Conclusions
Clinicians should consider the possibility of PMs in patients with symptoms and signs that may suggest the presence of a pituitary mass. Since PMs can be cancer first manifestation, the recognition of PMs determines the referral to adequate oncological therapy. Prognosis is usually poor and it's difficult to estimate as it varies significantly depending on the systemic disease and the primary histology. Recognition and management of PMs remain complex and require a multidisciplinary team of endocrinologists, oncologists, neurosurgeons and neuroradiologists.
Keep looking until you find
Authors: Tuomola Nelli 
Published: January 2023

Abstract
The patient is 24-years old male with no previous medical history. He has worked for the last 3 years in the packaging line of Divigel, the estradiol gel of the pharmaceutical company Orion. He sought medical attention 11/2014 due to soreness of both breasts, that had continued for a few weeks.
In laboratory tests taken in primary health care, E2 was elevated at 0.49 nmol/l (reference range &lt;0.15 nmol/l), LH immeasurably low (1,7–8,6 U/l), testosterone 33 nmol/l (10–38 nmol/l). Liver and thyroid values were normal. An ultrasound examination of the breasts revealed gynecomastia: mammary gland tissue was seen under the nipple on both sides, 2 cm on the left, 1.5 cm on the right. The ultrasound examination of the testicles did not reveal any abnormality.
The patient was referred to the endocrinology outpatient clinic. E2 was then 0,236 nmol/l, testosterone 42, free testosterone 547 pmol/l (190–560 pmol/l), SHGB 51 (18–54 nmol/l), LH &lt;0,10 U/l, FSH 0,12 U/l (1,5–12,4 U/l), PRL 426 (86–324 mU/l), hCG elevated 37 U/l (&lt;2 U/l) and free β-hCG 5,8 pmol/l (&lt;2 pmol/l).
In 12/2014, the patient underwent a CT scan of the body and ultrasound examination of the testicles was repeated: no abnormality was found in either examination. 18F-FDG PET/CT of the body was performed in the same month, also with normal findings. At the beginning of 2015, MRI examinations of the mediastinum, lower and upper abdomen, and head were performed; no explanation was found. Cerebrospinal fluid hCG, which was low &lt;1,0 IU/l, and S-AFP, which was 2 kU/l (&lt;10 kU/l), were also checked.
At follow-up, hCG continued to rise to 135 U/l and E2 to 0.424 nmol/l.
Imaging studies were repeated: CT of the body was performed in 11/2015 and 8/2015, ultrasound examination of the testicles in 4/2015, 8/2015 and 12/2015. In 3/2016, a 11C-metionine PET/MRI of the body was performed. No abnormal findings were found.
In the sixth ultrasound examination of the testicles in 6/2016, a 5×6 mm low-echo, solid tumor was finally found on the surface of the left testicle at the very front edge. No abnormalities were found in the right testicle.
Testicular operation was performed 6/2016. Findings suitable for seminoma were found in the ice section, after which the left testicle was removed. Histopathological findigs were consistent with seminoma. In immunostaining, the tumor cells were PLAP- and CD117-positive, and a widely positive reaction was seen around the tumor in the seminiferous tubules, consistent with carcinoma in situ findings. CD30-, CKPan-, hCG-, inhibin- and AFP-stainings were negative. The findings were consistent with seminoma, and no other germ cell tumor components were found.
After surgery, E2 and hCG values normalized. Abdominal CT examination did not reveal any metastases. Follow-up by an oncologist continued for five years, and no signs of recurrence were found.
Sometimes we know what we are looking for, but reaching a diagnosis may require persistence and repeated examinations.