bluuebunny/crossref_metadata_2025_split huggingface dataset:
P-15 DIAGNOSTIC PITFALL - A RARE CASE OF HYPERCALCEMIA
Authors: Stanescu Anastasia Patricia Smocot , Stancu Cristina , Goldstein Andrei , Badiu Corin 
Published: January 2025

Abstract

Introduction
Infantile hypercalcaemia type 1 (IIH) is an autosomal recessive disorder characterized by homozygous mutations in the CYP24A1 gene that encodes the 24-hydroxylase enzyme used to inactivate 1,25-(OH)2-vitamin D.

Clinical Case
A 24-year-old male was referred to our department for the evaluation of hypertension and nephrolithiasis, in the context of hypercalcemia. The general physical examination and the endocrinological assessment revealed no abnormalities. The patient was initially evaluated in nephrology & urology departments, where computed tomography (CT) revealed renal nephrocalcinosis and a lower right renal cyst, with no findings at thoracic level. Laboratory results confirmed hypercalcemia (total calcium 12.6 mg/dL, Ca++ at 5.49 mg/dL), alongside low parathyroid hormone (PTH) at 3 pg/mL. Malignancy was ruled out by normal PTH-related peptide levels (&lt;0.5 pmol/L) and normal 25-hydroxyvitamin D levels (46 ng/mL), though 1,25-dihydroxyvitamin D was slightly elevated (81.8 pg/mL; Ref: 19.9−79.3 pg/mL). Bone metabolism markers, including FGF-23, serum crosslaps, and osteocalcin, were normal, excluding metabolic bone disease. Urine/24h: low urinary calcium (0.27 g/24h) and normal urinary phosphate (0.87 g/24h). In the diagnostic algorithm, hypercalcemia can be PTH-mediated, non-PTH-mediated, medication-induced, and miscellaneous causes. The patient's low PTH and suppressed PTH-rp excluded primary hyperparathyroidism and malignancy-related hypercalcemia. Normal 25(OH) vitamin D and slightly elevated 1,25(OH) vitamin D levels raised the suspicion of extrarenal 1-alpha-hydroxylation of vitamin D, a mechanism seen in granulomatous diseases such as sarcoidosis or tuberculosis, or in lymphomas. However, granulomatous diseases were excluded based on negative chest X-ray and thoracic CT findings and normal angiotensin-converting enzyme (ACE) levels.
Other possible malignancies were excluded: germ cell tumors, such as non-seminomatous germ cell tumors, testicular cancers, particularly seminomas or choriocarcinomas, Hodgkin's lymphoma and multiple myeloma. Additionally, through medical history, clinical examination, and laboratory tests, we have also excluded hyperthyroidism, acromegaly, pheochromocytoma, adrenal insufficiency, bed rest/immobilization, parenteral nutrition, and supplements. Consequently, a genetic cause of abnormal renal calcium metabolism was suspected. Genetic testing revealed a heterozygous pathogenic mutation in the CYP24A1 gene, which is linked to Infantile Hypercalcemia Type 1.
The patient's diagnosis of IIH was confirmed by the detection of the CYP24A1 mutation. Management of his condition focuses on controlling calcium levels through dietary intake and diuresis to prevent kidney stones, as there is no specific treatment available.

Conclusion
This case report highlights the importance of determining the etiology of hypercalcemia and the significance of genetic testing in clinical management.
P-16 MANAGEMENT OF RECURRENT PARATHYROID CARCINOMA: A CASE REPORT OF MULTIDISCIPLINARY TREATMENT AND LONG-TERM SURVIVAL
Authors: Güneşli Irmak , Chalabiyev Elvin , Tuncel Murat , Uysal Serkan , Süslü Nilda , Ünlütürk Uğur , Oğuz Seda Hanife 
Published: January 2025

Abstract

Introduction
Parathyroid carcinoma is a rare endocrine malignancy, accounting for a small fraction of primary hyperparathyroidism (PHPT) cases. Its rarity complicates diagnosis due to overlapping symptoms with benign conditions and challenges in pathological examination. Limited cases result in insufficient data on optimal treatment strategies and outcomes.

Clinical Case
A 49-year-old male with a history of symptomatic primary hyperparathyroidism (PHPT) four years earlier was referred due to recurring hypercalcemia. His initial imaging scans were unobtainable, however, he had a pathology report indicating that he had total thyroidectomy, left-sided cervical lymph node dissection (LND) and parathyroidectomy. A poorly differentiated thyroid carcinoma measuring 4.5x3.5 cm with positive surgical margins and cervical lymph node metastases (15/24) were reported. Additionally, three parathyroid glands were excised; with one reported to be a parathyroid adenoma with a Ki-67 index of 7-10%.
The patient was asymptomatic for the following 4 years, except for a transient hypocalcemia early after surgery. However, recently, his symptoms of nausea, muscle weakness and fatigue returned due to recurrent PHPT. Two months before being referred to our center, he was assessed elsewhere (Serum Ca: 15.6 mg/dL, P: 1.9 mg/dL, creatinine: 1.2 g/dL, PTH: 1121 pg/mL), and given 5 mg intravenous zoledronic acid, followed by cinacalcet 30 mg daily. At the time of his presentation to our center, physical examination was unremarkable except surgical scars compatible with thyroidectomy and left-sided cervical LND, and a fixated left-sided supraclavicular lymph node of ∼2 cm. Upon presentation at our center, his labs showed Calcium: 12.07 mg/dL, phoshorus: 1.63 mg/dL, PTH: 1319 pg/mL, and imaging revealed multiple metastatic lymph nodes and lung metastases. A pathology re-evaluation confirmed parathyroid neoplasia, as the immunohistochemical evaluation of the specimens were positive for PTH but negative for thyroidal markers. Multidisciplinary treatment included cervical LND, surgical removal of lung and pleura metastases for reducing tumor load, followed by denosumab, and 16 cycles of paclitaxel and carboplatin, achieving stable disease. Sorafenib was then administered and continued for 18 months. The patient has an 8-year overall survival, with rather stable PTH levels (909-1626 pg/mL), with recent rapid PTH progression to 7897 pg/mL.

Conclusion
Management of parathyroid carcinoma requires a multidisciplinary approach, with a focus on meticulous metastatic assessment and calcium control. Surgical excision is advised for regional recurrences, while surgery for distant metastases is mainly palliative. Though rare, multikinase inhibitors may help manage hypercalcemia, but long-term survival data are lacking, warranting further research.
P-21 POSSIBLY ECTOPIC PTH SECRETION IN A WOMAN WITH METASTATIC BREAST CANCER
Authors: Mustafa Dönmezer Çağrı , Gökay Aslı , Şahin Sevgi , Demir Atakan , Tokat Fatma , Anaforoğlu Inan 
Published: January 2025

Abstract

Introduction
Hypercalcemia is a common complication in malignancies, with various causes such as tumor secretion of parathyroid hormone-related peptide (PTHrP), osteolytic metastases or tumor-induced calcitriol production. Ectopic production of parathyroid hormone (PTH) is a rare cause of hypercalcemia. This report presents a rare case of metastatic breast cancer possibly associated with ectopic PTH secretion.

Clinical Case
A 66-year-old female with a history of invasive ductal carcinoma and metastases of bone and liver was referred to our endocrinology clinic due to persistent hypercalcemia. She had been presented with atypical-pathological femur fracture 2 years ago and metastatic breast cancer had been detected. Her primary cancer treatment included conventional chemotherapy and immunotherapy over the past 2 years. She had been already treated with zoledronic acid from the beginining of the chemotherapy for her bone metastases. During her follow up hypercalcemia had been detected at the 30 th month of the therapy; her calcium was around 9-10 mg/dl and increased to 12 mg/dl abruptly while shewas on zoledronic acid. Laboratory tests showed elevated PTH levels accompanying hypercalcemia. Neck ultrasound and parathyroid scintigraphy were negative for any parathyroid pathology. A biopsy of the liver metastasis was performed during the transarterial chemoembolization procedure to make an immunohistochemical staining for PTH but it was negative. The patient was given cinacalcet with changing dosages according to the calcium levels besides zoledronic acid. Under these medications both calcium and PTH levels continued to rise;during a short period which she could not take cinacalcet because of side effects, her calcium was measured 17.5mg/dl,and didn't come to normal levels despite glucocorticoid and furosemide treatment which she subsequently required hemodialysis. Zoledronic acid was replaced with denosumab. Although calcium levels were controlled with denosumab and low dosage cinacalcet PTH levels remained elevated, suggesting ongoing ectopic PTH secretion. With no identifiable parathyroid hormone source and persistent high PTH levels despite normalized calcium, the diagnosis of ectopic PTH production was assumed. Besides the high levels of PTH we couldn't visualize a lesion secreting PTH on the contrary of direct relationship between the volume of parathyroid lesions and PTH levels.

Conclusion
This case represents a rare complication of metastatic breast cancer possibly associated with ectopic PTH production causing hypercalcemia. Despite extensive imaging,no parathyroid adenoma or alternative explanation for the elevated PTH was found, reinforcing the need for awareness of ectopic hormone production in the management of hypercalcemia in cancer patients. Early recognition and appropriate management of such atypical cases are crucial to avoid unnecessary interventions and to tailor treatment strategies effectively.
P-27 H SYNDROME: CASE REPORT
Authors: Khudhair Mahmood Shakir , Turki Mohamed Sami , Altae Gelal Abidali , Alsaffar Araz Basim 
Published: January 2025

Abstract

Introduction
H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which encodes the human equilibrative transporter 3 (hENT3). H syndrome is a rare autoinflammatory syndrome with pleiotropic manifestations that affect multiple organ systems. We are presenting first possible case of H syndrome reported in Iraq up to our knowledge.

Clinical Case
A 14 year old Iraqi boy presented with abnormal lower limb hyperpigmentation, and symmetrical, indurated plaques with marked hypertrichosis over medial aspect of thighs and legs. The skin hyperpigmentation was not itchy and did not involve the feet and knees. This hyperpigmentation had been present for several months.
The patient was known to have type 1 diabetes mellitus (DM) since 5 years of age and was treated with insulin with fair control, although without features of advanced microvascular diabetic complications. The patient had deafness and he was wearing a hearing aid device recently.
Laboratory analysis showed normal kidney and liver function and normal blood counts but with subclinical hypothyroidism and surprisingly positive serology for celiac disease and this feature was not reported in the few documented cases in the literature.

Conclusion
This rare syndrome of skin hyperpigmentation, diabetes and deafness may represent the first reported case of H syndrome in Iraq and occurrence of celiac disease is another manifestation that could be part of this syndrome.Figure 1:Hyperpigmentation
P-28 A CASE OF MODY TYPE 9 WITH C.89T&gt;C MUTATION IN PAX4 GENE
Authors: Mısıroğlu Fuat , Belten Zeynep Elüstü , Şahin Kimyon Özge , Mert Meral , Piskinpasa Hamide , Çiftçi Sema , Çakır Ilkay 
Published: January 2025

Abstract

Introduction
Maturity-onset diabetes (MODY) is a rare type of diabetes mellitus (DM) with autosomal dominant inheritance that occurs at a young age, constituting 1-2% of all DM cases. Most MODY cases are misdiagnosed as type 1 or type 2 DM. MODY9 is a rare type caused by a mutation in the Paired box gene 4 (PAX4). We aimed to present a case that had been followed for eight years, initially diagnosed as type 1 DM, but later diagnosed with MODY type 9 after a PAX4 gene mutation was detected as a result of genetic analysis.

Clinical Case
A 23-year-old male patient had been followed up for eight years with a diagnosis of type 1 DM. In the evaluation, his body mass index was normal, fasting glucose level was 143 mg/dl, HbA1c was 9.5%, C peptide level was 607 pmol/L (370-1470 pmol/L), low-density lipoprotein was 112 mg/dl, and triglyceride was 60 mg/dl. He did not show signs of diabetic neuropathy or retinopathy and had no history of hospitalization due to diabetic ketoacidosis. His father also had DM. Because the patient was diagnosed at a young age, type 1 DM was accepted without checking insulin autoantibodies at the time of diagnosis, and intensive insulin therapy was started. Due to the patient's age, normal body mass index, normal C peptide level, family history and genetic evaluation was requested for monogenic diabetes diseases. As a result of the analysis performed in the patient's genetic laboratory, the C.89T&gt;C missense variant in the PAX4 gene was detected. As a result of clinical findings and gene analysis, the patient was diagnosed with MODY type 9.

Conclusion
PAX4-MODY typically presents between ages 6 to 44 and is more common in men. The severity of diabetes may vary, with some patients experiencing diabetic ketoacidosis (DKA), impaired glucose tolerance, and potential complications such as renal or retinal issues, or end-stage renal failure. Treatment for MODY9 primarily involves a diabetic diet, physical activity, insulin therapy, and possibly oral hypoglycemic agents, tailored to the individual's disease progression.
O-10 AN OVARIAN THECOMA PRESENTING WITH POST-MENOPAUSAL VIRILIZATION
Authors: Yazan Ceyda Dincer , Ustay Ozlem 
Published: January 2025

Abstract

Introduction
Virilizing ovarian tumors are a rare cause of hyperandrogenism in women, account for less than 5% of all ovarian neoplasms. In most cases presents with increased serum testosterone levels and normal dehydroepiandrosterone-sulfate levels. Ovarian thecoma is a rare, benign tumor of stromal cell origin which represents less than 1% of ovarian tumor. It occurs most often in perimenopausal and postmenopausal women. Here we present a postmenopausal women presenting with hirsutism.

Clinical Case
A 53 year old female patient was referred to the endocrine outpatient clinic with the complaint of progressive hirsutism started after menopause in the last year. She had no special past medical history and medical history. She was in post-menopausal period for one year. She had androgenic alopecia and deepening voice. Her hemogram analysis, renal and liver function tests were in normal range. Hormonal analysis revealed a markedly increased serum testosterone level, 654 ng/dl, normal dehydroepiandrosterone-sulfate levels. High testosterone levels were confirmed in repeated examinations. Transvaginal ultrasonography and examination were found to be normal. Magnetic Resonance Imaging was performed due to significantly high testosterone levels and 30x18 mm right ovarian mass was found compatible with thecoma. Patient was referred to gynecology for surgery.

Conclusion
Ovarian thecoma is a very rare tumor accounting about 1 % of solid ovarian tumors. The İncidence of this tumor is highest in pre and postmenopausal period. Thecomas are mostly benign and solid. During reproductive age, patient presents with hirsutism, acne, virilization findings. In postmenopausal period patient may present with mild virilization, post-menopausal bleeding and endometrial hyperplasia/cancer. Surgery is the primary treatment modality for virilizing thecoma.
O-11 IDIOPATHIC HYPERANDROGENAEMIA
Authors: Petrovic Branko , Tomsic Karin Zibar 
Published: January 2025

Abstract

Introduction
Increased serum concentrations of androgens in women are referred to as hyperandrogenaemia. The most common cause is polycystic ovary syndrome.

Clinical Case
We report the case of a 38-year-old female patient who was referred to our clinic because of biochemical hyperandrogenemia. The first examination was initiated by her gynecologist because of weight gain. The patient had gained 15 kg over the last four years without changing her diet. Among the laboratory findings, we highlight a significantly elevated testosterone level that was 4x above the upper limit of normal (ULN), in addition to a slightly elevated dehydroepiandrosterone sulfate (DHEAs) level that was 1.5x above the ULN, with normal gonadotropin levels. Clinically, she had regular menstrual cycles and showed no signs of hyperandrogenism or cushingoid features.
A transvaginal ultrasound revealed no abnormalities. To determine the source of the elevated testosterone, we performed a gonadotropin-releasing hormone analogue stimulation test (GAST) with goserelin. Testosterone levels remained unchanged before and after the test and were 2.5x above the ULN, suggesting an adrenal origin. However, an MSCT of the adrenal glands showed no abnormalities.
Although the patient had no clinical symptoms related to elevated androgen levels, we measured 17-hydroxyprogesterone (17-OHP) at the beginning of her menstrual cycle, which was within the normal range.

Conclusion
During the follow-up examinations, her testosterone levels were consistently 3 to 4 times above the ULN, with no clinically recognizable signs of androgen excess. To date, the cause of the androgen excess has not been identified.
P-33 PRIMARY OVARIAN INSUFFICIENCY AS A COMPONENT OF AUTOIMMUNE POLYGLANDULAR SYNDROME
Authors: Şahin Kimyon Özge , Mısıroğlu Fuat , Belten Zeynep Elüstü , Çiftçi Sema , Çakır Ilkay , Mert Meral 
Published: January 2025

Abstract

Introduction
Primary ovarian insufficiency (POI) is characterized by amenorrhea secondary to ovarian dysfunction accompanied by high gonadotropin levels in women before the age of 40. Autoimmunity is estimated to account for 5-17% of POI etiologies. Although it varies according to its subtype, the prevalence of POI in patients with autoimmune polyglandular syndrome (APS) is reported to be between 16% and 40%. It may take several years to recognize the syndrome. Generally, a multidisciplinary approach is needed to diagnose and treat the cases accurately. The present case report described the diagnostic process of such a patient.

Clinical Case
A 19-year-old female patient applied to our outpatient clinic with the complaint of disruption of menstrual cycles for nine months. She was diagnosed with type 1 diabetes mellitus and chronic autoimmune thyroiditis for nine years and was receiving insulin glargine, insulin aspart, and levothyroxine treatment. She reported that her menarche age was 12 years, and she had regular menstrual cycles until the previous year; it was learned that she first experienced oligomenorrhea and then amenorrhea for nine months. Her body mass index was within normal limits on examination, and secondary sex characteristics were fully developed. Laboratory tests revealed fasting plasma glucose 180 mg/dL, HbA1c: 9.5%, TSH: 2.2 mIU/L, free T4: 1.4 ng/dL, Anti-TPO: 120 IU/mL, (&lt;34), prolactin: 18 mcg/L, basal serum cortisol: 15 mcg/dL. β-hCG was negative. Karyotype analysis was determined as 46, XX without structural chromosomal abnormality. Following the progesterone challenge test, the patient had no bleeding, and serum FSH level, which was checked twice, was high, serum estradiol was low, and AMH was also low at 0.1 ng/mL. The patient was diagnosed as POI based on this clinic and laboratory features. Bone density was found to be within normal limits in bone densitometry. The patient, who currently does not seek fertility and does not consider oocyte freezing, was started on hormone replacement therapy with transdermal estradiol and oral micronized progesterone.

Conclusion
POI is rarely seen in women before the age of 30, but patients with APS should be screened and closely followed up to identify other organ dysfunctions that may be targets of the immune system. When POI is diagnosed at an early age, attention should be given to other accompanying autoimmune diseases and polyglandular syndrome.
O-09 A CASE OF INSULINOMA FOLLOWED BY MEDICAL TREATMENT WITH HIGH RISK OF SURGERY
Authors: Akgün Cansu , Kebapci Medine Nur , Yorulmaz Göknur , Kalkan Ahmet Toygar 
Published: January 2025

Abstract

Introduction
Insulinoma is a rare neuroendocrine tumor originating from pancreatic beta cells. Insulinomas occur in 1-4 per million in the general population and represent 1-2% of all pancreatic neoplasms. They are usually sporadic but can also be associated with multiple neoplasia syndrome. The diagnosis of classical insulinoma depends on fulfillment of the Whipple triad criteria, which remain the cornerstone of the screening process: (1) hypoglycemia (plasma glucose &lt; 50 mg/dL); (2) neuroglycopenic symptoms; and (3) immediate resolution of symptoms following glucose administration. A number of non-invasive techniques are available for localization of suspected insulinoma, including transabdominal ultrasonography, CT and/or MRI. Once localized, the first option is surgical treatment. In patients who are not suitable for surgical treatment, follow-up with medical treatment is required.

Clinical Case
An 84-year-old woman was admitted to the emergency department with dyspnea and was diagnosed as a COPD attack. During follow-up, sweating and palpitations were also present. It was determined that hypoglycemia was the cause of the patient's current clinic. The patient was internalized in our clinic to investigate the etiology of hypoglycemia. The patient's fasting blood results were glucose: 33 mg/dl, insulin: 16.2 Uu/ml, c peptide: 5.08 ng/mL and the blood results obtained at the time of neuroglucopenic symptoms were glucose: 49 mg/dl, insulin: 22 Uu/ml, c peptide 4.85 ng/mL. Abdominal CT and PET CT were planned with a prediagnosis of insulinoma. Abdominal CT was interpreted as “A hyperdense nodular lesion approximately 14 mm in size was noted in the body-tail section of the pancreas and was evaluated in favor of a neuroendocrine tumor in the first plan.” PET CT revealed a 9x10 mm solid nodule with low metabolic activity uptake (SUV Max: 3.11) at the pancreatic body/tail junction. We diagnosed the patient with insulinoma. We planned medical treatment for the patient with advanced stage COPD and heart failure because surgery was high risk. We started octreotide sc. 2x100 mcg treatment because there was a delay in the supply of diazoxide treatment. The patient's blood sugar normalized with this treatment. Hypoglycemia was not observed. After 1 week, diazoxide treatment was obtained. Diazoxide 3x50 mg was prescribed. The patient did not have hypoglycemia even with diazoxide treatment.

Conclusion
Insulinoma is a rare functional neuroendocrine tumor. Preoperative localization tests should be performed after biochemical diagnosis. The primary treatment is surgical resection. Diazoxide and somatostatin analogs may be used in lesions that cannot be removed surgically. In our case, we preferred medical treatment because surgery is high risk due to advanced stage COPD and heart failure. We observed the efficacy of medical treatment in managing hypoglycemia in our patient.