bluuebunny/crossref_metadata_2025_split huggingface dataset:
O-04 A diagnostic riddle of an adrenal incidentaloma
Authors: Sane Riikka , Viukari Marianna , Matikainen Niina , Jäntti Camilla Schalin 
Published: January 2024

Abstract

Clinical case
A 78-year-old male underwent preoperative CT as transcatheter aortic valve implantation was planned. In addition to a 6 cm incidental mass in the right adrenal, it also revealed unspecific pulmonary nodules. The patient was referred to the Endocrine unit. Non-contrast adrenal CT demonstrated a heterogenous 6 cm tumor, &lt; 10 HU.
The patient had a history of psoriasis, type 2 diabetes mellitus, hypertension, chronic kidney disease, atrial fibrillation, peripheral artery disease, aortic stenosis and coronary artery disease. Clinical examination revealed no signs of Cushing's syndrome.
First, normal blood metanephrine/normetanephrine concentrations confirmed that pheochromocytoma was ruled out. The possibility of a metastatic tumor mass was investigated by tumor biopsy, histopathology was compatible with an adrenocortical neoplasm, Ki67 2%.
Further laboratory work-up is given in Table 1.
How should the laboratory findings be interpreted?
Primary aldosteronism was ruled out. Cortisol was not suppressed on 1mg DST, in contrast to perfectly normal 24h urinary free cortisol.
Late night salivary cortisol (LNSC) was markedly increased, 1210 nmol/l and low ACTH concentration further suggested true hypercortisolism.
Does the patient suffer from hypercortisolism?
The patient had no clinical signs of Cushing syndrome, albeit cardiometabolic diseases. False positive DST and LNSC results were suspected. Indeed, the patient was using 1% hydrocortisone lip lotion. On repeat screening after discontinuation of hydrocortisone, LNSC was 3.8 nmol/l, and DST remained positive (258nmol). The patient was diagnosed with autonomous cortisol excess (MACS) (1).
Should the patient undergo surgery for the right adrenal mass?
MACS in combination with relevant co-morbidities and large tumor size indicated surgery (1), which the patient consented to. After surgery, cortisol concentrations remained suppressed which prompted hydrocortisone replacement therapy. Final pathology review classified the tumor as an adenoma, Weiss Score 0/9 and Ki-67 2%.

Conclusion
False positive cortisol screening tests are common and must be ruled out before surgery. For DST, common explanations are exogenous glucocorticoid use, drugs that accelerate dexamethasone metabolism and estrogen induced increase in CBG. The most common pitfalls for LNSC are deranged circadian rhythm and exogenous hydrocortisone.
Reference (1). Fassnacht el al. European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas. European Journal of Endocrinology,2023; 189(1): G1–G42.Table 1
P-05 Malignant pheochromocytoma with a negative biomarker hormonal assay: A case report
Authors: Mohammed Adel Gassab , Hassan Muteib Ahmed Abul , Sajit Assad Hussein , Alwaeli Dheyaa Kadhim 
Published: January 2024

Abstract

Description
Malignant pheochromocytoma is a rare, predominantly sporadic, but also familial disease, with a malignancy frequency of about 10%.

Clinical Case
A 25-year-old male was referred to us by the general surgeon after he had a hypertensive crisis during the appendectomy surgery and then accidentally discovered a left adrenal gland mass by CT scan. Assessment of the patient done by physical examination, the height 168cm, weight 53 kg and the BMI 19 kg/m2 and the vital sign was Bp 200/110, and PR 87 b/min. Investigations: normal renal function test and negative metanephrines, normetanephrine and aldosterone, renin and aldosterone renin ratio also normal serum electrolytes. Imaging abdomen CT shows a mass measuring 4.8 X3.7X6.2 cm in its (AP, TS&CC dimension) in the left adrenal gland (encircle), density 40-50 HU. with central hypo density represented cystic necrosis. Right adrenal is normal limbs following intravenous contrast, the left adrenal mass enhances brightly (130-140HU) with central cystic necrosis … consisting with typical features of pheochromocytoma. The patient referred to expert surgeon and there was some preoperative preparation inform of the patient received phenoxybenzamine (alpha blocker) the receive propranolol to control reflux tachycardia and normalized the blood pressure, resection of left adrenal mass was done and the gross tissue biopsy was sent to histopathologist, and the result revealed a diagnosis of malignant pheochromocytoma, after two weeks from operation CT images post operatively after total resection of left adrenal mass revealed clear bed no residual SOL with surgical clips seen.

Conclusion
Marker-negative Pheochromocytomas are an uncommon form of the illness. Even more dangerous forms, malignant pheochromocytomas typically release metabolites. However, a doctor must be alert to patients with negative markers who exhibit typical symptoms and must make a diagnosis using a combination of clinical, radiologic, and biochemical testing. When choosing patients for presurgical alpha blockade, this is extremely important.
Table 1
P-11 Case report of Primary Hyperparathyroidism and Pulmonary Embolism
Authors: Mashayekhi Yashar , Baba-Aissa Sara , Al-Qaysi Amina Adil , Owles Henry , Panourgia Maria , Ahmed Mohamed H 
Published: January 2024

Abstract

Introduction
Primary hyperparathyroidism (PHPT) is a disorder characterized by excessive parathyroid hormone secretion, resulting in hypercalcaemia. Patients with PHPT are believed to be in a hypercoagulable state due to the role of calcium in the platelet function and the coagulation pathway.

Clinical Case
An 82-year-old male with a background history of deep vein thrombosis twelve years ago, was admitted with left leg pain following a fall, he was found to have an intra-capsular left neck of femur fracture for which he underwent left hip hemiarthroplasty at a later stage during his admission. He was also found to have adjusted calcium of 2.9 mmol/L at admission, parathyroid hormone of 15.2 pmol/L, raised urine calcium-creatinine ratio of 0.39 and he was vitamin D replete (vitamin D 50.3 nmol/L). He was treated for delirium and a urinary tract infection and his inflammatory markers continued to worsen, this triggered performing a CT scan of the chest, abdomen and pelvis, which revealed a right parathyroid nodule and an acute pulmonary embolism (PE). He was commenced on prophylactic dose of low molecular weight heparin at admission, it was changed to a therapeutic dose of low molecular weight heparin after the PE diagnosis and then to Apixaban for three months. The patient was assessed to not be suitable for parathyroidectomy, the decision was made to manage the PHPT medically and he is going to be followed up locally at the Endocrinology Clinic.

Conclusion
There have been few case reports suggesting a correlation between the hypercalcaemic PHPT and the risk of venous thromboembolism. Ionised calcium is necessary for thrombin formation, platelet activation and aggregation, as well as activation of various clotting factors, such as factor VII and factor X. Studies have also shown that these patients have increased protein S activity and fibrinogen levels. This case, among other cases that we have observed in our hospital, highlights that the hypercalcaemia could pose an additional hypercoagulability risk in the presence of other risk factors.
P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
Authors: Bektaş Mustafa , Yavuz Dilek Gogas 
Published: January 2024

Abstract

Introduction
The Birt Hogg Dube syndrome is an autosomal dominant genodermatosis caused by a mutation in the folliculin gene. It is characterized by benign lung cysts with spontaneous pneumothorax, kidney tumors, and hair follicle tumors. Other solid tumors may accompany. Our case is a man with Birt Hogg Dube Syndrome who has parathyroid cancer.

Clinical Case
A 50-year-old male was referred to our clinic for treatment of hypercalcemia and elevated parathormone; he complained of weakness, muscle, and joint discomfort. His previous medical history included Renal Cell Carcinoma, Coronary artery by-pass graft, pulmonary thromboembolism, hypertension, nephrolithiasis, and stage 4 chronic kidney disease.
There was a familial history of colon cancer, with both his aunt and uncle having been diagnosed. The systemic evaluation revealed the presence of constipation, polyuria, pollakiuria. A palpable 3 cm nodular lesion was discovered in the inferior lobe of the patient's left thyroid, and the patient's vital signs were stable. There were lesions on the inner surface of the right thigh and the skull. The biopsies obtained from the lesions on the skin revealed a lipoma on the cranium and a fibrofolliculoma on the thigh upon pathological examination. Regarding laboratory exams, both the hemogram and transaminase levels were within normal limits. Serum albumin was measured at 4.9 g/L creatinine at 2.5 mg/dl, calcium at 12 mg/dl, ionized calcium at 5.9 mg/dl, phosphorus at 2.4 mg/dl, parathormone at 373 ng/dL, and 25-OH Vitamin D at 32 ng/ml. Alkaline phosphatase was determined to be 66 U/L, and 24-hour calcium output was 60 mg/day. The thyroid function test results were euthyroid, while the anterior pituitary panel was normal.
The patient underwent a left inferior parathyroidectomy after thyroid ultrasonography and parathyroid scintigraphy revealed a parathyroid adenoma. The parathyroid carcinoma is identified in the pathology report. The ultrasound-observed nodule on the isthmus of the thyroid has been identified as thyroid papillary carcinoma.
Bone mineral density was normal. A previously performed CT scan of the thorax for dyspnea revealed the presence of multiple cystic structures in the lungs. Taking into account the patient's history of multiple malignancies, an 18-FDG-PET CT scan was performed, revealing a significant FDG uptake (SUV Max: 22) in the patient's sigmoid colon. Pathology analysis of the removed lesion confirmed that it was a tubulovillous adenoma with high-grade dysplasia.
The patient, who showed heterozygosity for the Folliculin gene, was identified as having Birt-Hogg-Dube syndrome after further genetic panel testing.

Conclusion
According to the most recent literature evaluation, our patient is the first Birt Hogg Dube individual to present with parathyroid carcinoma. There is some evidence in the published literature linking somatic mutation of the Folliculin gene to the development of parathyroid cancer.
P-23 Insulin autoimmune syndrome possibly induced by Alpha-Lipoic acid
Authors: Uysal Serhat , Yılmaz Efekan , Damci Taner 
Published: January 2024

Abstract

Introduction
Insulin autoimmune syndrome (IAS) is a relative rare cause of hypoglycemia due to the presence of extremely high circulating insulin levels and elevated serum concentrations of autoantibodies to human insulin despite no prior exposure to exogenous insulin, insulin analogues or oral hypoglycemic agents. It is characterized by repeated fasting hypoglycemia or episodes of hypoglycemia late after meals in non-diabetic, non-acutely ill patients. Increasing the titer of insulin autoantibodies and immune reactive insulin occurs owing to both genetic influences and environmental triggers such as medication, genetic instability and other factors. It is associated with the use of drugs comprising sulfhydryl groups, such as methimazole, clopidogrel and alpha lipoic acid, mostly. Insulin autoantibodies appear a few weeks after the exposure of sulfhydryl radicals. Here, we summarize the case of IAS caused by drug administration.

Clinical Case
A 60-year-old female patient who has a history of migraine for 30 years was referred to our hospital for feeling of hunger, dizziness, sweating, tremor, and palpitations for 1 month. These symptoms had commenced episodically, soon after starting 600 mg/day of alpha lipoic acid. She was diagnosed with hypoglycemia based on a plasma glucose concentration of 31 mg/dL. There was no personal or family history of diabetes mellitus, or previous use of oral hypoglycemic drugs such as sulfonylureas or exogenous insulin. No abnormality was detected in the systemic examination. She had no smoking and alcohol abuse. Her regular medication was tricyclic antidepressant (amitriptyline). Laboratory results are presented in Table 1. On our evalution, the serum levels of insulin, C-peptide, and anti-insulin antibody titers were inappropriately elevated in the presence of hypoglycemia, confirming the diagnosis of hyperinsulinemic hypoglycemia. Thyroid function, human growth hormone, insulin growth factor-1 (IGF-1), and cortisol result were within normal limits. Screening for antinuclear factor, serum protein electrophoresis, serology for viral hepatitis, and other autoimmune diseases were negative. Insulinoma was excluded with computed tomography. In light of the above results, a diagnosis of IAS was made with possible alpha lipoic acid. Because, alpha lipoic acid was the only medication being taken associated with a sulfhydryl group. The patient was prescribed oral methylprednisolone (32 mg once daily), alpha lipoic acid was withdrawn. Hypoglycemia did not occur after methylprednisolone treatment of follow-up. Methylprednisolone treatment was tapered to 4 mg once daily within 2 months. The insulin, and anti-insulin antibody titers had decreased.

Conclusion
We report a rare case of IAS. Sulfhydryl group containing drugs such as alpha lipoic acid might induce or exacerbate hypoglycemia in patients with a history of IAS. For this reason, the use of alpha lipoic acid should be questioned in patients with IAS.
Table 1. Laboratory test results
O-16 Never too late: Delayed diagnosis of Prader-Willi syndrome
Authors: Baş Aksu Özge , Canpolat Asena Gökçay , Leblebici Can Berk , Karabulut Halil Gürhan , Çorapçıoğlu Demet 
Published: January 2024

Abstract

Introduction
Prader-Willi syndrome (PWS) is the leading inherited cause of severe childhood obesity. The aim of this case report is to describe a case of delayed diagnosis of PWS and to emphasize the importance of early diagnosis of PWS.

Clinical Case
A 24-year-old young woman with a history of hyperphagia, severe obesity, and cognitive impairment was admitted to our department for glycemic control due to newly diagnosed type 2 diabetes mellitus. She also had obstructive sleep apnea, daytime sleepiness, scoliosis, short stature (148 cm), and impaired speech articulation. Central obesity (BMI:54.7 kg/m2, waist circumference 147 cm), cognitive impairment, and characteristic body and facial features (narrow bifrontal diameter, almond-shaped palpebral fissures, small hands and feet, strabismus) suggested a genetic disorder. Test results showed growth hormone 0.07 ng/mL (0-3.5) and IGF-1 46 ng/mL (191-478). Cytogenetic analysis was performed on GTG-banded metaphases obtained from peripheral blood lymphocyte culture. t(3;16)(p21;p13) was observed in the patient. Cytogenetic analysis of the parents showed that this translocation was of paternal origin. The SNRPN gene was amplified from the patient's genomic DNA by PCR using methylation-specific primers after bisulfite modification. PCR products were visualized by agarose gel electrophoresis. The methylation pattern was found to be consistent with PWS. Hypocaloric diet (1400 Kcal/day) metformin 2 g/day, liraglutide (dose gradually increased to 2.4 mg/day), and dapagliflozin 10 mg/day were started. During hospitalization, glycemic regulation was achieved and 5.4 kilograms of weight loss occurred.

Conclusion
Obesity-related complications (e.g. sleep apnea, type 2 diabetes) and behavioral problems contribute significantly to morbidity and mortality in individuals with PWS. Prevention and treatment of morbid obesity and related conditions in individuals with PWS and management of maladaptive behaviors are key goals that require long-term follow-up and attention to managing the process. In these adults with compulsive eating behaviors who lack the ability to make informed decisions, it is very challenging to ensure compliance with treatments such as obesity treatment and the use of assistive devices for sleep apnea, which require the patient's consent and compliance. The complexity of this multisystemic disease increases with age, and we emphasize the need for early diagnosis to reduce the morbidity and mortality associated with PWS.Figure 1.Used with the patient's and family's consent.
P-47 Rare case of acromegaly due to plurihormonal pituitary adenoma and ACTH-independent Cushing syndrome
Authors: Elfekih Hamza , Abdessalem Fatma Ben , Bnina Molka Ben , Gorchene Asma , Ach Koussay , Hasni Yosra , Chaieb Molka 
Published: January 2024

Abstract

Introduction
The concurrence of acromegaly and Cushing syndrome is infrequent. Pituitary adenomas are responsible for acromegaly and for Cushing syndrome in about 95% and 80% of cases respectively. Except adrenal adenoma, the other causes of Cushing syndrome remain rare. We here describe a case of a Tunisian patient with acromegaly due to plurihormonal pituitary adenoma and ACTH-independent Cushing syndrome with bilateral macronodules.

Clinical Case
A 35-year-old male patient was diagnosed with acromegaly by acrofacial dysmorphia. He had a family history of type 2 diabetes mellitus and hypertension but no endocrine diseases. He has diabetes mellitus for 15 years, hypertension and obstructive sleep apnea. Physical examination showed multiple blue nevi in the trunk. IGF-1 was elevated (1680ng/mL) and GH levels were not suppressed after an oral glucose load (nadir 78ng/mL). He had hypogonadotropic hypogonadism with normal prolactin (9,66ng/mL). Basal cortisol, FT4 and TSH levels were in the normal ranges. Pituitary MRI showed pituitary macroadenoma of 25×20.7 mm, invading both cavernous sinuses and compression of optic chiasma. He underwent transsphenoidal resection with histology confirming a prolactin, GH and LH co-secretory pituitary adenoma. He received postoperatively somatostatin analogue and cabergoline, in addition to external radiotherapy. Ultrasonography found infracentimetric EU-TIRADS 2 left nodule and multiple colloid cysts of the thyroid, testicles microlithiasis and no cardiac myxomas. Nine years after the diagnosis of acromegaly, bilateral adrenal adenomas (left:14 mm, right: 9 mm) were incidentally discovered by CT-scan done for abdominal pain. Low dose dexamethasone suppression test was carried out showing no suppression of cortisol and the low ACTH level confirmed ACTH-independent Cushing syndrome.

Conclusion
In our patient, at least two endocrine syndromes deserve to be mentioned. The first syndrome is Multiple Endocrine Neoplasia Type 1 but calcium and PTH levels were normal and there was no sign for neuroendocrine tumors. The second one is Carney's complex since our patient has acromegaly and multiple blue nevi which are two major criteria confirming the diagnosis. Cushing syndrome in Carney's complex is related to primary pigmented nodular adrenal disease characterized by micronodular hyperplasia. However, bilateral macronodules could be found in up to 30% of cases.
P-50 Plurihormonal cystic pituitary adenoma: Case report
Authors: Seremet Aristia , Vudu Lorina , Vudu Stela , Leahu Pavel , Dusa Ina Aga 
Published: January 2024

Abstract

Introduction
Pituitary adenomas account for 10-15% of all intracranial neoplasms. Around 1/3 of cases are cystic pituitary adenomas presented by non-staining tumors, usually being prolactinomas and rarely – somatotropinomas. Combined prolactin and growth hormone-secreting adenomas are uncommon and clinical diagnosis can be deferred due to symptoms specific for only one of the excess secreted hormones.

Clinical Case
A 47-years-old woman was referred to our clinic in November 2022, her only complaint being headaches in the occipital region that persisted for the last 7 years. The patient had a history of taking various SSRI/SNRI antidepressants and benzodiazepines continuously for the same period of time (7 years). She presented outpatient prolactin test results from August 2022 showing a level of 3180 µUI/ml [N 17-637 µUI/ml], 10 fold dilution - 2947 µUI/ml and a pituitary scan that revealed a 13.3×9.6×11.1 mm tumor with a cystic component, invading the suprasellar cistern and the left cavernous sinus. Anamnesis determined that she had two children, a regular menstrual cycle and no heredocolateral antecedents. Clinical examination revealed milky white breast discharge and mild changes in the face, hands, and feet structure that were suggestive of acromegaly. Before admission the patient was started on 0.5 mg cabergoline weekly.
On admission, prolactin levels were still elevated, and the cabergoline dose was increased. Of all the pituitary axes the only out-of-range value was IGF-1 – which was elevated to 53.1 nmol/l [N 10.3-28.57]. The patient refused surgery for the moment, and no pharmacological treatment options were available in the country.
The patient was lost to follow up and had returned in August 2023 with complaints of general fatigue and malaise. History revealed that in May 2023 she suffered from severe headaches and was admitted to the neurosurgery department of a local hospital, where she underwent transsphenoidal surgery for the pituitary adenoma. The histology showed chromophobe adenoma tissue, no follow-up immunohistology was done. After the surgery, cabergoline was stopped. During our exploration of the pituitary function – there were no deficits or excesses registered. Considering that co-secreting pituitary adenomas are common for MEN syndromes, she was tested for presence of thyroid, parathyroid, adrenal tumors, but no imagistic or laboratory findings were detected.

Conclusion
In the light of global increased use of antidepressant and anxiety relieving medication, this clinical case underlines the importance of a thorough assessment in these patients, before and during treatment. Additionally, prolactin and growth hormone co-secreting pituitary adenomas often have a silent clinical presentation and may be challenging in diagnosis. A multimodal management is necessary as plurihormonal adenomas require both control of hormone excess and tumor growth.
P-51 Association of Bardet-Biedl syndrome with differences of sex development and pituitary hypoplasia
Authors: Amine Amani Mohammed El , Benghani Mohammed Mahieddine , Ammar Soraya Benammar 
Published: January 2024

Abstract

Introduction
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder involving hypogonadism manifested by cryptorchidism, micropenis and/or delayed puberty

Clinical Case
We report the case of a 13-year-old child, who was consulted for obesity and whose physical examination showed major signs of SBB: global obesity, polydactyly, learning difficulties and visual disorders. Genital examination revealed a 1 cm genital tubercle with a single orifice and two genital swelling without palpable gonads. Biological investigations revealed hypogonadotropic hypogonadism, corticotropic insufficiency, low AMH with a non- stimulable HCG test and a 46XY male karyotype. Pelvic MRI did not show any gonads or internal genitalia but noted ectopy and malrotation of the right kidney. The diagnosis of a testicular regression syndrome is very likely in this case.
At the fundus photography: presence of bilateral retinal dystrophy with high myopia. At the hypothalamohypophyseal level: a strong pituitary hypoplasia was objectified.

Conclusion
BBS is a rare autosomal recessive multisystem ciliopathy. The incidence of BBS is 1 in 150,000–160,000 in Europe and North America. BBS is caused by a dysfunction of the gene coding for proteins that are implicated in the function of the primary cilia and in important signaling pathways. The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impairment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy.
To our knowledge, only one study conducted on 11 children with BBS found among them 7 cases of pituitary abnormalities, 4 of which showed hypoplasia. While no association with a testicular regression syndrome has been described. This makes our patient the first described association of these 3 pathologies.