bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT678 Metabolic Disorders In Thalidomide Embryopathy
Authors: Tanabe Akiyo 
Published: October 2023

Abstract
Disclosure: A. Tanabe: None.
Thalidomide embryopathy (TE) is a disease that develops in neonates born from women who have taken thalidomide during early pregnancy. Most cases of TE are characterized by developmental abnormalities of the limbs and/or auditory organs. In Japan, thalidomide was marketed as an agent for sleep-induce and digestive ulcers from 1958 to 1962. Up to now, 309 patients have been certified and are supported by the government as drug-induced disease. Currently, many of the victims are in their late 50s, and in addition to congenital disabilities, various health issues such as lifestyle-related diseases can be developed. We investigated their metabolic condition using data of medical health checkup between 2017 and 2019. Sixty-five Japanese cases of TE (33 men and 32 women) were included in this study. The mean age was 56.3±1.5 years in men and 56.1±1.2 years in women. The prevalence of upper limb deformities was 70% in men and 72% in women. The mean body mass index (BMI) was 22.7±2.1 in men and 22.5±4.0 in women. Twelve percent of men and 9% of women had a BMI between 25-30, while 9% of women and no men had a BMI of 30 or greater. Liver dysfunction was seen in 67% of men and 19% of women. The mean low-density lipoprotein cholesterol level was 61±19 mg/dL in men and 69±22 mg/dL in women. The mean high-density lipoprotein (LDL) cholesterol level was 116±29 mg/dL in men and 142±35 mg/dL in women, with 21% of men and 56% of women had LDL level of 140 mg/dL or greater. The mean triglyceride (TG) level was 137±82 mg/dL in men and 121±70 mg/dL in women, with 39% of men and 22% of women had a level of 150 mg/dL or greater. The mean fasting blood glucose level was 114±31 mg/dL in men and 102±17 mg/dL in women. The mean HbA1c level was 5.9±0.9% in men and 5.9±0.4% in women. The prevalence of impaired glucose tolerance was 19% in men and 9% in women. Fatty liver evaluated by ultrasonography or CT scan was 56% in men and 41% in women. The patients with fatty liver showed significantly high BMI, body fat percentage and TGs in men, high alanine aminotransferase and TGs in women, respectively, compared to the patients without fatty liver. There was no significant difference in with or without the upper limb abnormalities in both groups. This is the second report of metabolic disorders in TE, following one from our research group in 2015. Although without obvious overweight, thirty percent of the patients had dyslipidemia and 50% of the patients had the fatty liver. Because there was no association between limb abnormalities and metabolic disorders, other factors could be involved in the development of metabolic disorders. The results of this study provide valuable information for future health management in thalidomide embryopathy. (This study was conducted by a research grant from the National Center for Global Health and Medicine, Japan: 21A1015 and a Grant-in-Aid from the Ministry of Health, Labour, and Welfare, Japan: 20KC2005, 23KC2017).
Presentation: Saturday, June 17, 2023
FRI326 Hypophysitis: A Formidable Diagnostic Challenge
Authors: Pandey Shanta , Houston Caroline 
Published: October 2023

Abstract
Disclosure: S. Pandey: None. C. Houston: None.
Background: Hypophysitis, defined as inflammation of the pituitary gland, may pose a formidable diagnostic challenge due to its protean clinical manifestations and growing spectrum of potential causes. We present a case of a young man with presumed hypophysitis in whom the etiology remains unknown. Case Summary: A previously healthy 20-year-old male with bilateral gynecomastia was referred to the endocrinology clinic. He reported a 1-year history of worsening fatigue, weight gain, intermittent headaches, bilateral breast enlargement, lack of morning erections, polydipsia, and polyuria. His childhood growth and pubertal development were reportedly normal. He denied prior head or testicular trauma, major systemic illnesses, and chronic opiate or glucocorticoid use. His physical exam was remarkable only for scant facial hair and bilateral nontender gynecomastia. His visual fields were normal, and sense of smell was intact. Laboratory evaluation at 8am revealed low total and free testosterone of 32 ng/dL (240-950) and 0.98 ng/dL (5.25-20.7), respectively, with LH of 1.4 mIU/mL (1.0-12.0) and FSH of 1.9 mIU/mL (1.0-12.0). Free T4, prolactin, IGF-1, and serum sodium were all within normal ranges. Serum cortisol was modestly elevated at 22.3 ug/dL (3.7-19.4) with normal ACTH of 49 pg/mL (7.2-63.0). Pituitary MRI showed diffuse thickening and enhancement of the pituitary stalk, compatible with infundibular hypophysitis, without evidence of mass effect upon the native gland or surrounding structures. Additional testing showed normal levels of serum calcium, iron, ferritin, ESR, and antinuclear antibodies. After overnight water deprivation, his serum sodium was elevated at 156 mmol/L (134-144) with low urine osmolality of 121 mOsmol/kg (300-900). He was started on desmopressin and testosterone, and close clinical monitoring was enacted. Conclusion: The diagnosis of hypophysitis poses multiple challenges. Its clinical manifestations can vary widely, including symptoms related to mass effect and/or symptoms of pituitary dysfunction. Diagnosis is often presumptive based on history and exam, biochemical evaluation, and neuroimaging. The spectrum of potential causes is broad and growing, including infiltrative, infectious, neoplastic, immunoglobulin G4-related, immunotherapy-induced, other autoimmune, and paraneoplastic causes. It is often a humbling experience for clinicians to narrow this exhaustive differential. Pituitary biopsy is the gold standard for diagnosis but poses significant risks, so is reserved for cases when the diagnosis remains uncertain or malignancy is suspected. Close clinical monitoring and re-evaluation is an acceptable alternative in select cases.
Presentation: Friday, June 16, 2023
FRI327 Lymphocytic Hypophysitis Presenting As Hypoprolactinemia In A Post-partum Female
Authors: John Jessica , Graybill Sky 
Published: October 2023

Abstract
Disclosure: J. John: None. S. Graybill: None.
Lymphocytic hypophysitis is the most common presentation of primary pituitary gland inflammation. It typically presents with headache, vision changes, and sequelae of hypopituitarism, including central diabetes insipidus, anterior pituitary dysfunction, and hyperprolactinemia. Lymphocytic hypophysitis has a propensity to affect women in association with pregnancy due to an unknown underlying mechanism. A 38-year-old female presented with intractable headache and peripheral vision changes 3 weeks after giving birth to twin boys. Her post-partum course was complicated by preeclampsia with severe features. She also began experiencing blurry vision during this period. Seventeen days after delivery, she developed an acute onset headache and peripheral vision loss. She also noted sudden cessation of lactation with the onset of her headache. Initial CT head demonstrated a 1.6 centimeter enhancing pituitary mass suspicious for macroadenoma, and subsequent MRI sella revealed a 2.0 x 1.7 x 1.5 cm heterogeneously enhancing mass arising from the pituitary adenohypophysis extending to the undersurface of the optic chiasm. Initial laboratory evaluation demonstrated central hypothyroidism and inappropriately normal prolactin for a recently post-partum female. Given the patient’s impending vision loss, she was taken to the operating room for resection of suspected pituitary macroadenoma. Upon gross dissection, the abnormal appearance of the suspected mass prompted biopsy and immediate frozen section evaluation demonstrated significant lymphocytic infiltration. The resection was subsequently aborted. The patient was placed on levothyroxine and prednisone 80 milligrams daily for suspected lymphocytic hypophysitis, which was confirmed on tissue pathology. The patient’s headache and vision changes improved and after six days, she was discharged on a prednisone taper. Following three months of prednisone therapy, a repeat MRI sella demonstrated a reduction in the overall size of the pituitary gland to 1.7 x 1.2 x 1.1 cm. The patient was maintained on physiologic hydrocortisone and levothyroxine while monitoring for potential pituitary function recovery. Twelve months following her initial diagnosis, the patient did not demonstrate normalization of anterior pituitary function and required ongoing treatment for hypopituitarism. While hypoprolactinemia is atypical of hypophysitis, it is imperative to consider alternative pituitary pathology such as lymphocytic hypophysitis in the post-partum female when the clinical history is suspicious.
Presentation: Friday, June 16, 2023
FRI328 Granulomatous Hypophysitis With Magnificent Response To Glucocorticoids
Authors: Rodriguez Caballero Maria Galiana , Romero Fabiola , Escurra Clara , Rodriguez Roque , Rolon Roger , Valinotti Elizabeth , Ayala Alejandro 
Published: October 2023

Abstract
Disclosure: M. Rodriguez Caballero: None. F. Romero: None. C. Escurra: None. R. Rodriguez: None. R. Rolon: None. E. Valinotti: None. A. Ayala: None.
Granulomatous hypophysitis corresponds to 1% of sellar lesions. It maybe primary or secondary to tuberculosis, Pneumocystis carinii, Toxoplasma gondii, Cytomegalovirus or parasitic infections. Non-infectious etiologies include sarcoidosis, vasculitis, dendritic cell disorders, ruptured Rathke cysts or Crohn's disease. A 59-year-old immunocompetent woman was evaluated for decreased visual acuity, diplopia, and palsy of the 6th cranial nerve. Asellar MRI confirmed an 18 x 14 x 12 mm pituitary lesion with chiasmatic compression and visual field involvement. Hormonal evaluation revealed a TSH 0.03 mIU/L, FT4 0.44 ng/dL, random of GH 5.64 ng/mL, FSH 55.2 IU/mL, LH33.1 mIU/mL, and cortisol of 16 ng/dl. There was no evidence of diabetes insipidus. Transsphenoidal resection resulted in visual field improvement with a noticeable residual tumor of 12 x 9 x5 mm within the sellar space on the postoperative MRI. The patient developed panhypopituitarism. Pathology revealed non-caseous granulomatosis, with histiocytic aggregates of giant cells forming granulomas, with negative immunohistochemistry for mycobacteria. Tuberculin test, VDRL, blood cultures, ANA, Anti-DNA, ANCA C and P were negative. Tomography images and PET scan ruled out systemic involvement. The patient was treated with high doses of glucocorticoids under a presumptive diagnosis of isolated pituitary sarcoidosis vs. primary hypophysitis, resulting in complete disappearance of the lesion. Conclusion: Granulomatous hypophysitis is the second most common cause of chronic inflammation of the pituitary gland mimicking pituitary adenomas. Surgical removal and glucocorticoids are often utilized although there is no consensus regarding the treatment. Our case illustrates the importance of considering this diagnosis when confronted with incidental sellar lesions. Pharmacotherapy resulted in symptomatic improvement and complete involution of the pituitary lesion confirming the utility of empiric high-dose glucocorticoid as a therapeutic strategy for granulomatous hypophysitis.
Presentation: Friday, June 16, 2023
FRI366 “Carotid Body Tumor” Is A Misnomer For Head And Neck Paraganglioma
Authors: Rabiei Samaneh , Kantorovich Vitaly 
Published: October 2023

Abstract
Disclosure: S. Rabiei: None. V. Kantorovich: None.
Introduction: Glomus tumors are often treated as benign, hormonally inactive tumors through simple surgical resection. In many cases, full endocrine work-up and post-resection surveillance are overlooked. Endocrine consultation is currently underutilized in patients with glomus tumors because features of paragangliomas (PGs) such as multiple tumors are not always clinically evident at the time of initial presentation. It is important to be aware that carotid body and glomus tumors should be considered a variant of head and neck paraganglioms (HNPGs) and endocrinology consultation should be requested early on to optimize patients’ outcome. Case Presentation: Patient is a 52-year-old female who presented with back pain and difficulty walking. Imaging obtained for back pain work-up revealed a 6.2 x 4.4 x 4.2 cm right paraspinal soft tissue mass at T9 level on MRI with local invasion and cortical destruction of the T9 vertebra and involvement of the spinal canal. She was also found to have a 0.2 cm solid pulmonary nodule within the right lower lobe on chest CT. The history was also significant for resection of a jugular glomus tumor 12 years prior at the age of 40. Pathology findings at the time were consistent with glomus tumor. She also reported history of glomus tumor in her sister. However, the patient did not undergo genetic study at the time of diagnosis of her primary tumor.The patient subsequently underwent T9 corpectomy. Pathology report revealed a 5-cm tumor with characteristic histologic appearance of PG with epithelioid foci growing in distinctive small nests (Zellballen pattern), separated by prominent fibrovascular stroma with moderate cellularity and with slightly elevated (approximately 5%) Ki-67. Genetic study revealed a carrier state for a pathogenic variant of SDHD (c.112C&gt;T; p.Arg38*). Gallium-68 DOTATATE PET/CT demonstrated intense focal DOTATATE uptake at the site of previous left-sided jugular glomus tumor resection as well as small foci of uptake bilaterally in upper and mid neck. Intense DOTATATE avidity was also identified at T8, T9, and T10 levels. Serum metanephrine, catecholamine, and PTH levels were within normal range. Chromogranin A is pending at this time. Discussion: We presented a case of glomus tumor in a young patient with a positive family history for glomus tumor who did not receive genetic study upon initial diagnosis of her primary tumor. The patient presented 12 years later with metastatic thoracic PG. Considering high mortality and morbidity of PGs, it is recommended to request endocrinology consultation at the time of diagnosis of carotid body or glomus tumors to prevent negative effects of disease recurrence.
Presentation: Friday, June 16, 2023
SAT226 A Case Of Congenital Hypopituitarasim Has The Genetic And Phenotypic Features Of Orofacial Syndrome
Authors: Aljasser Abdullah Abdulruhman , Alhashem Amal 
Published: October 2023

Abstract
Disclosure: A.A. Aljasser: None. A. Alhashem: None.
Introduction: Reports on pediatric hypopituitarism are very scarce. The prevalence of hypopituitarism in children is not well documented; there are only pockets of case reports and case series in literature. Pediatric hypopituitarism has multifactorial etiologies and can occur in neonates, infants, children and adolescents. The incidence of congenital hypopituitarasim is 1in 4000-1in 10000. Majority of CH cases are sporadic. howfer small number of familial cases have been identified. A molecular basis has frequently been identified. Between 80-90% cases remain unsolved in terms of molecular genetics. It can be syndromic or isolated congenital hypopituitarism depend on stage of embryogenetic fault. Case: Her we describe a case of Syndromic type of congenital hypopituitarism. A term baby weigh;2.62 kg height; 49 cm and HC 32 cm found to be dysmorphic in form of bilateral cleft lip and palate and flat nose and hypertolirism. She was well until age 2-3 day where she became ill and hemodynamically ill needs ICU in the NICU. Her labs shows: from endocrine point of view: very low ACTH and very low Cortisol and low TSH and low Free T4 (table will be in the poster). After replacement therapy and stabilization, her MRI brain shows absent anterior Pituitary and ectopic neurohypophysis and absent pituitary stalk. Later investigations shows normal chromosomes and CGH array. After evaluation and investigation by our genetic colleges, there was an abnormality in the WES study. See results (table) Conclusion: her we present a positive correlation between the phenotypic and genetic results in our case shows an addition of similar cases reported before
Presentation: Saturday, June 17, 2023
SAT594 Thyroid Dysfunction Is Very Common In Patients With Pheochromocytoma And Paraganglioma: A Cross-sectional Study
Authors: Ramirez-Renteria Claudia , Garcia-Saenz Manuel Ramon , Morin-Martinez Nadia Patricia , Albarran-Sanchez Alejandra 
Published: October 2023

Abstract
Disclosure: C. Ramirez-Renteria: Speaker; Self; Ipsen. M. Garcia-Saenz: None. N. Morin-Martinez: None. A. Albarran-Sanchez: None.
Background: Thyroid function abnormalities are reported in 8-9% of the general population, but the prevalence may change according to different ages, populations, iodine intake, etc. Preoperatory evaluations for pheochromocytoma (Pheo) and paragangliomas (PGN) don’t include routine thyroid function tests, but uncontrolled hypo- or hyperthyroidism may result in adverse effects outcomes during surgery. Aim: to describe the frequency of thyroid function abnormalities in patients evaluated for Pheo and PGN in a referral center. Materials and Methods: All the medical files of adult patients evaluated for Pheo or PGN between January 2018 and December 2022 were reviewed. The available clinical, biochemical, imaging, and pathology data confirming the diagnosis were retrieved. We determined the frequency of patients with a previous diagnosis of thyroid disease, type of disease, and date of diagnosis and recorded the data of patients without a diagnosis but that had their thyroid function tested during the perioperative evaluation. Results: 359 patients with Pheo/PGN were evaluated, 72.7% had a neck PGN, 88% were women and the median age at diagnosis was 56.5 years (IQR 45-66), thyroid function tests were performed in 51.3%, and only 22.8% were normal, 20.9% had primary hypothyroidism, 3.9% had hypothyroidism after a procedure, 2.5% had hyperthyroidism, and 1.1% had thyroiditis. The patients with neck PGN were the most likely to present with hypothyroidism (p=0.006) and they were also the most likely to have hypothyroidism during follow-up, Abnormal thyroid images were found in 19.2%. Thyroid dysfunction was detected before the tumor in 21.5%, during the evaluation of the tumor in 25.8%, and after in 52.7%. Hypertensive cardiomyopathy was more common in patients with abnormal thyroid function (OR 1.969, CI 95% 1.052-3.685, p=0.032), as well as cardiomegaly (OR 2.145, CI 95% 1.200-3.835) and hypertension (OR 1.937, CI95% 1.269-2.956). Conclusions: Pheo/PGN are frequently associated with thyroid dysfunction. Heart disease and hypertension are more common in patients with both comorbidities. Thyroid function tests are suggested during perioperative evaluation in patients with a history of thyroid disease, thyroid abnormalities in imaging, poor blood pressure control, or heart disease. Thyroid function may require an additional evaluation in some cases during the follow-up of Pheo/Para.
Presentation: Saturday, June 17, 2023
SAT615 Long-term Effects Of Transsphenoidal Surgery On Headache In Patients With Pituitary Tumors - A Prospective Study
Authors: Hantelius Victor , Ragnarsson Oskar , Johannsson Gudmundur , Thurin Erik , Skoglund Thomas , Hallen Tobias 
Published: October 2023

Abstract
Disclosure: V. Hantelius: None. O. Ragnarsson: None. G. Johannsson: None. E. Thurin: None. T. Skoglund: None. T. Hallen: None.
Objective: Headache is a common symptom in patients with non-functioning pituitary adenomas (NFPA). The aim of this study was to analyze the long-term effect of transsphenoidal surgery (TSS) on disabling headache in patients with NFPA and to investigate possible predictive factors for headache relief following TSS. Methods: This was a prospective study of 101 patients with NFPA who underwent TSS between September 2015 to December 2021. Headache was assessed preoperatively and 12 months postoperatively with The Migraine Disability Assessment (MIDAS) questionnaire. MIDAS measures the impact of headache on the everyday life during the last 3 months and assess the headache frequency and intensity. Results: Of 101 patients, 27 (27%) experienced disabling headache preoperatively. In these 27 patients, the median (interquartile range) total MIDAS total score improved from 60 (19-140) to 10 (0-49) (p=0.004; max score 270), headache frequency decreased from 45 (25-83) to 6 (3-36) days per 90 days (p=0.002), and headache intensity decreased from 5 (4-7) to 4 (2-7) (p=0.016; on a scale 0-10 at 12 months after surgery. Overall, 18 of 27 patients (67%) had a clinically relevant improvement of their headache, 4 (15%) had a clinically relevant deterioration and 5 (19%) had no clinically relevant change at one year after surgery. No clinical factors that predicted postoperative headache relief were identified. Conclusions: Our study supports that transsphenoidal surgery achieves clinically significant and long-lasting improvement of disabling headache in patients with NFPA.
Presentation: Saturday, June 17, 2023
SAT029 Goldfish Phoenixin: Role In Feeding Control And Its Regulation At The Hepatic Level
Authors: Qin Xiangfeng , Ye Cheng , He Mulan , Wan Ko Wendy Kit , Wong Anderson On-Lam 
Published: October 2023

Abstract
Disclosure: X. Qin: None. C. Ye: None. M. He: None. W.K. Ko: None. A.O. Wong: None.
Phoenixin (PNX), a novel peptide first identified by bioinformatics, is known to have pleiotropic functions and its biological actions are mediated via the orphan receptor GPR173. At present, the study of PNX in non-mammalian species, especially in lower vertebrates, is limited and hormone regulation of PNX as well as the post-receptor signalling involved are still unclear. Using goldfish as a model for bony fish, two forms of PNX, PNXa & b, and one form of GPR173 were cloned. Phylogenetic analysis confirmed that goldfish PNXa, PNXb & GPR173 could be clustered in respective clades of target genes in fish species. Alignment of a.a. sequences and 3D protein modelling also revealed that goldfish PNXa & b were highly comparable to PNX reported in other vertebrates. Using RT-PCR, PNXa/b & GPR173 were found to be ubiquitously expressed at tissue level. For functional testing, PNXa & b were synthesized and tested for their effects on feeding control by IP injection in goldfish. In this case, parallel rises in foraging behaviours and food intake were noted after PNX treatment. Similar results were also obtained with ICV injection of PNXa & PNXb, respectively. In goldfish, food intake could elevate plasma levels of glucose, insulin, growth hormone (GH) and IGF-I with parallel rises in transcript expression of GH in the pituitary and PNXa, PNXb, insulin & IGF-I mRNA in the liver. In goldfish hepatocytes, insulin and IGF-I were both effective in up-regulating PNXa & b mRNA expression via activation of IGF-I receptor (IGF1R) but not insulin receptor. Using a pharmacological approach, IGF-I induced PNXa & b gene expression could be blocked by the inhibitors for PI3K, Akt and mTor but not by the inhibitors for MEK1/2, ERK1/2 and P38MAPK. Our results, as a whole, indicate that (i) PNX & GPR173 are co-expressed in goldfish at tissue level & involved in feeding induction, presumably via central action in the brain, (ii) food intake can up-regulate hepatic expression of PNXa & b via insulin signal caused by glucose uptake and parallel activation of the GH/IGF-I axis after feeding, and (iii) hepatic expression of PNXa & b induced by insulin/IGF-I signal is mediated via IGF1R functionally coupled with the PI3K/Akt/ mTOR but not MEK/ERK & P38MAPK pathways.
Presentation: Saturday, June 17, 2023