bluuebunny/crossref_metadata_2025_split huggingface dataset:
FRI251 A Combination Of Klinefelter Syndrome And The Classic Form Of Congenital Dysfunction Of The Adrenal Cortex: Clinical Case
Authors: Volkova Natalia I 
Published: October 2023

Abstract
Disclosure: N.I. Volkova: None.
Introduction: Congenital adrenal hyperplasia (CAH) is a defect in one of the enzymes or transport proteins involved in the synthesis of cortisol in the adrenal cortex. Virile form of CAH is characterized by cortisol deficiency and hyperandrogenism. Klinefelter syndrome is one of the most frequent chromosomal diseases leading to the development of primary hypogonadism. The manifestation of these two diseases in one patient causes difficulties in diagnosis and medical treatment that leads to adverse consequences. Clinical Case: A 43-years-old patient consulted a physician complaining about the lack of erections for 4 years, breast enlargement. From anamnesis, it is known: that the patient at the age of 2 years and 8 months based on experienced growth of pubic hair, decreased level of 17-ketosteroids in the urine and genetic analysis diagnosis of CAH, virile form was suspected. Prednisone 5 mg daily was prescribed. At the age of 5, based on phenotypic features and karyotyping Klinefelter Syndrome (XXY) was diagnosed. At the age of 13, stimulating hormonal chorionic gonadotropin drug with only one course of 10 injections was prescribed. At the age of 18, the patient independently canceled the use of prednisone. Further, he did not receive medication therapy for CAH and Klinefelter syndrome. At the age of 42, adrenal CT revealed formation of the left adrenal gland. High levels of aldosterone and renin were detected. A diagnosis of left adrenal aldosteroma was made and a left-sided adrenalectomy was performed. Histological examination diagnosis of aldosteroma did not confirmed. On physical examination, BMI 30 kg/m2, genoid type of obesity, right testicle is not palpated, left testicle is dense, reduced in size. Small penis size.Laboratory examination revesled decreased level of total testosterone, normal level of SHBG, LH and FSH. Ultrasound of the scrotum organs revealed as well decrease in the size of the testicles and appendages, a volumetric formation of the right testicle, suspicious of tumor. Thus, diagnosis of CAH, virile form and Klinefelter syndrome, primary hypogonadism, right-sided cryptorchidism was confirmed. Hydrocortisone 30 mg daily was prescribed. Hormone replacement therapy with testosterone preparations was not prescribed until surgical treatment of neoplasm of the right testicle will be performed. Conclusion: We have demonstrated a combination of two endocrine pathologies and serious mistakes were made in the management of this patient that requires a multidisciplinary approach, which improves the prognosis and quality of life of these patients.
Presentation: Friday, June 16, 2023
FRI260 Adrenal Hemangioma, Mimicker Or Malignant?
Authors: Pham Christopher , Chiu Christine Elizabeth , Barnett Braden 
Published: October 2023

Abstract
Disclosure: C. Pham: None. C.E. Chiu: None. B. Barnett: None.
Background: Adrenal hemangioma is a rare condition that can mimic other adrenal pathologies. Clinical Case: A 49 year old male with history of heart failure presented with cardiogenic shock requiring inotropes and heart transplant evaluation. On CT patient was noted to have a 2.2 cm left adrenal nodule containing calcifications. Initial tests had indeterminate 1 mg overnight DST, normal plasma free metanephrines and elevated plasma free normetanephrines 2.06 nmol/L (0-0.89 nmol/L). PRA was 22.82 ng/mL/hr (0.25-5.82 ng/ml/hr) with aldosterone 10.8 ng/dL (&lt;16 ng/dL) on spironolactone. 24 hour urine tests showed normal free cortisol 9.8 mcg/24hr (4-50 mcg/24hr) and elevated total metanephrines at 1245 mcg/24hr (182-739 mcg/24hr), metanephrines at 303 mcg/24hr (58-283 mcg/24hr), and normetanephrines at 942 mcg/24hr (88-649 mcg/24hr). Adrenal CT demonstrated HU of 59 units on noncontrast phase, with -86.7% absolute washout and -17.6% relative washout. I-123 MIBG Scan was obtained with no radiotracer uptake noted. Patient underwent laparoscopic adrenalectomy for definitive diagnosis and was found to have adrenal hemangioma with CD31 and ERG with hemosiderin laden macrophages on pathology. Adrenal hemangioma is rare and can mimic other adrenal pathology. Most patients present with abdominal symptoms such as flank pain or are found to have an adrenal incidentaloma on imaging. CT findings are associated with heterogenous internal structure, peripheral patchy enhancement, or calcifications, which are also seen in malignancy and pheochromocytoma. In all cases, HU if recorded are noted to be &gt;10 on the unenhanced phase and &lt;60% absolute washout. In one case series of 52 adrenal hemangiomas, only 3 patients had positive biochemical tests and on average were 11 cm in size. Formal diagnosis is made pathologically. Treatment for adrenal hemangioma is typically resection for symptomatic relief, with some patients with small lesions electing to observe. In all surgical cases reviewed in a case series adrenalectomy was pursued as opposed to needle biopsy due to large size of lesion and concern for possible malignancy. In this specific case, biochemical testing was falsely positive given the patient’s presentation of cardiogenic shock and inotropes causing elevated catecholamine levels and given imaging findings could not fully rule out pheochromocytoma. Given the small size of lesion, the patient in a non-transplant setting likely could have pursued close observation as opposed to resection. Conclusion: Adrenal hemangioma can have imaging characteristics that can mimic several other adrenal pathological conditions, such as malignancy or pheochromocytoma. Treatment through surgical management is likely not necessary in patients with hemangioma, though would be important in ruling out other adrenal pathology.
Presentation: Friday, June 16, 2023
FRI262 Can Selective Serotonin Reuptake Inhibitors Unmask Underlying Polyglandular Autoimmune Syndrome Type II?
Authors: Dehghani Shabnam , Kalik Salina , Zaidan Julie , Nisar Aqsa 
Published: October 2023

Abstract
Disclosure: S. Dehghani: None. S. Kalik: None. J. Zaidan: None. A. Nisar: None.
Background: Patients with chronic use of SSRIs are at increased risk of developing hyponatremia secondary to SIADH but a full work up to exclude other etiologies might still be warranted if patient has risk factors. Clinical Case: 63-year-old female with past medical history of rheumatoid arthritis and hypothyroidism secondary to Hashimoto thyroiditis presented to the hospital for evaluation of syncopal episodes associated with dizziness, loss of consciousness and weight loss. She was started three weeks prior to presentation on Escitalopram 10 mg for mild depression. On exam she had orthostatic hypotension, she looked tanned but there was no buccal or palmar pigmentation. Admission blood work showed Na level of (111 mmol/L, n:135-145 mmol/L), Potassium of (5.7 mmol/L, n: 3.5-5 mmol/L), Creatinine of (0.8 mg/dL, n:0.7-1.5 mg/dL). Urine Sodium was (59 mEq/L, n: 20 mEq/L) and Urine osm (306 mOsm/Kg, n:50-1200 mOsm/kg). TSH was normal and 8 AM cortisol level was (6.0 ug/dL, n: 6.0-18.4 ug/dL). Initially Hyponatremia was attributed to SIADH secondary to use of Selective Serotonin Reuptake inhibitors, however her autoimmune comorbidities, orthostatic hypotension and physical exam findings warranted more work up to rule out Adrenal insufficiency. The 250 mcg Cosyntropin Stimulation test was done with baseline cortisol of (4.6 ug/dL, n: 6-18.4 ug/dL) and cortisol at 30 minutes and 60 minutes of (5.2 ug/dL and 5.1 ug/dL respectively) confirming failure to respond to ACTH and diagnosis of adrenal insufficiency. She denied taking exogenous steroids. Later her ACTH came back very high (956 pg/mL, n:7-63 pg/mL), aldosterone was (5.3 ng/dL, n&lt;23 ng/dL), plasma renin activity was high at (20.095 ng/mL/hr, n:0.1-1.3ng/mL/hr) and anti-adrenal antibodies were positive confirming the diagnosis of Addison disease. Patient was started on IV hydrocortisone with slow resolution of hyponatremia and symptoms. She was discharged on maintenance hydrocortisone and fludrocortisone. Given the presence of Hashimoto thyroid disease and Rheumatoid arthritis, patient was diagnosed as having polyglandular autoimmune Syndrome type II. Conclusion: The signs and symptoms of adrenal insufficiency are often nonspecific, resulting in long delays in diagnosis or even misdiagnosis. Hyponatremia is one of the manifestations of adrenal insufficiency which can be inevitably missed or misdiagnosed with syndrome of inappropriate antidiuretic hormone (SIADH) as both can manifest as euvolemic hyponatremia and inappropriate urinary Na concentration. This case demonstrates the importance of thorough investigation of underlying etiologies of patients with symptomatic hyponatremia who are also at risk SIADH secondary to SSRIs use.
Presentation: Friday, June 16, 2023
FRI263 Challenges In Management Of Biochemically Silent Pheochromocytoma
Authors: Gannamani Gowtham , Gourdin Theodore Stewart , Fernandes Jyotika Kanwar 
Published: October 2023

Abstract
Disclosure: G. Gannamani: None. T. Gourdin: None. J.K. Fernandes: None.
Background: Incidental adrenal tumors are a common radiological finding. Biochemical work up is important as functioning adrenal tumors increase mortality and morbidity. Missing diagnosis of Pheochromocytoma can result in fatal outcomes. There have been case reports with asymptomatic and mildly elevated biochemical markers or symptomatic but no biochemical evidence which pose challenges in diagnosis. Here we describe a case of Metastatic Pheochromocytoma which was biochemically silent. Case Description: 61-year-old female with incidental finding of left adrenal mass measuring 8.7 x 5.6 x 5.7 cm on CT (Computed Tomography) scan for back pain 10 years prior to presentation. She was told no further testing was needed then as she was asymptomatic. She now has uncontrolled hypertension requiring multiple anti-hypertensives that prompted further work up. Biochemical work up at outside facility reported as normal aldosterone, renin activity, AM cortisol, ACTH, DHEA-S, plasma metanephrine and normetanephrine, epinephrine, norepinephrine, and dopamine. Elevated Chromogranin A of 5608 (normal &lt; 93 ng/mL). Repeat CT Abdomen showed multiple enhancing lesions in liver, large lobulated adrenal mass measuring 15 x 10 x 14 cm (previously 8.7 x 5.6 x 5.7 cm) with central necrosis, absolute washout is 63%. This mass extended into gastro-hepatic space, obliterating fat space between the left adrenal mass and tail of pancreas was also reported. Imaging was concerning adrenal malignancy vs Pheochromocytoma. Further work up with MRI (Magnetic Resonance Imaging) Abdomen showed 14 cm centrally necrotic mass suggestive of adrenal neoplasm with loco-regional involvement. CT chest with bilateral pulmonary nodules and diffuse sclerotic and lucent bone lesions concerning osseous metastatic disease. Liver biopsy positive for metastatic neuroendocrine neoplasm consistent with Pheochromocytoma, immunohistochemical stains positive for Synaptophysin, Chromogranin, S100, GATA3, Inhibin. Dotatate PET CT with large centrally necrotic left adrenal mass. Abnormal radiotracer uptake in left kidney, stomach, gastrohepatic lymph nodes, widespread osseous lesions suggesting metastatic disease. She was not a surgical candidate given extension of mass and metastasis to multiple organs. Treatment started with Sunitinib (Tyrosine kinase inhibitor), plan to repeat imaging in 4-6 months hoping for tumor shrinkage. References: 1. Pheochromocytoma without specific symptoms. Jpn J Surg. 1984 May 2. A diagnostic dilemma in diagnosing and managing an incidental pheochromocytoma. Exp Clin Endocrinol Diabetes. 2006 Apr 3. Asymptomatic and Biochemically Silent Pheochromocytoma with Characteristic Findings on Imaging. Case Rep Endocrinol. 2020 Sep 26
Presentation: Friday, June 16, 2023
FRI264 A Case Of Composite Pheochromocytoma And Ganglioneuroma
Authors: He Diana , Pullman James , Stefan Simona , Wong Beatrice Y 
Published: October 2023

Abstract
Disclosure: D. He: None. J. Pullman: None. S. Stefan: None. B.Y. Wong: None.
Background: Pheochromocytomas are catecholamine-secreting tumors that arise from chromaffin cells in the adrenal medulla or paraganglia. Representing 1-9% of pheochromocytomas, composite pheochromocytomas are rare tumors composed of pheochromocytoma and neural tumor components such as neuroblastoma, ganglioneuroblastoma, ganglioneuroma or peripheral nerve sheath tumor1. We present a case of composite pheochromocytoma and ganglioneuroma. Clinical Case: A 69-year-old man presented with recurrent dyspnea at rest, diaphoresis and tachycardia. He was diagnosed with heart failure with reduced ejection fraction and management included metoprolol 50 mg daily. On work-up, he was incidentally found to have a 1.2 cm left upper lobe lung lesion and an indeterminate 2.4 cm right adrenal mass on CTA chest. PET/CT scan showed an intensely avid left upper lobe lung nodule and a right adrenal mass with mild FDG uptake (SUV max 3.8). MRI abdomen demonstrated a 3.1 cm right adrenal lesion with a mildly thickened enhancing rim and a central enhancing nodular component suspicious for pheochromocytoma, metastases, schwannoma or ganglioneuroma. He then had a stroke with mild residual right-sided weakness. Oncological work-up of his lung and adrenal lesions eventually directed tissue sampling to biopsy of the adrenal lesion and pathology was consistent with pheochromocytoma. Subsequent biochemical evaluation revealed elevated plasma metanephrines of 194 pg/mL (&lt;= 57 pg/mL), plasma normetanephrines of 474 pg/mL (&lt;= 148 pg/mL), 24-hour urine metanephrines of 389 mcg (90-315 mcg) and 24-hour urine normetanephrines of 428 mcg (122-676 mcg). Pre-operatively, he was placed on phenoxybenazmine 10 mg twice daily and metoprolol 62.5 mg every 8 hours. The patient then underwent right adrenalectomy. The tumor nodule was adherent to and dissected off the inferior vena cava. Pathology showed composite pheochromocytoma with a small component of ganglioneuroma. Conclusion: This rare case of a composite pheochromocytoma with ganglioneuroma was diagnosed through histopathology as composite pheochromocytomas are clinically and radiographically indistinguishable from pheochromocytomas1. Management of composite pheochromocytomas with ganglioneuroma is similar to the management of pheochromocytomas, and surgical resection remains the first line treatment. Combined alpha and beta-adrenergic blockade is recommended to prevent intraoperative hypertensive crisis. However, more studies are needed to further understand these rare composite pheochromocytomas. References: 1.Shida Y, Igawa T, Abe K, Hakariya T, Takehara K, Onita T, Sakai H. Composite pheochromocytoma of the adrenal gland: a case series. BMC Res Notes. 2015 Jun 24;8:257. doi: 10.1186/s13104-015-1233-6. PMID: 26104921; PMCID: PMC4477526.
Presentation: Friday, June 16, 2023
FRI268 Late Onset Polyglandular Autoimmune Syndrome Type 2
Authors: Nicholson Matthew S , Barnett Anne 
Published: October 2023

Abstract
Disclosure: M.S. Nicholson: None. A. Barnett: None.
A 66-year old white female was admitted for weakness, acute kidney injury, and hypotension. This is her 3rd hospital or ER visit in the last 12 months for similar complaints. She has a 25 year history of type 2 diabetes on insulin and oral therapy and 30 year history of hypothyroidism on levothyroxine 75 mcg daily. She was on oral estrogen replacement therapy for post-menopausal symptoms with a hysterectomy in her early 50s. She has a sister with type 2 diabetes on oral meds and hypothyroidism. She has a brother with type 1 diabetes. Her serum sodium was 135 mmol/L (135-145), potassium was 5.4 mEq/L (3.5 -5.1), and calcium was 9.2 (8.5-10.1). Her Creatinine was 1.2 with a GFR of 48. A random cortisol in the ED was 9.2 (no ref range). Blood pressure was low and she was tachycardic and her weight was 68 kg. She was a well developed female with a a tanned complexion. Areas of vitiligo were noted on her arms. A cosyntropin stimulation test was done midday with a baseline, 30, and 60 minute cortisol levels of 9.2, 8.8, and 9.3 respectively. Baseline ACTH was 877.6 pg/mL (7.2-63.6). Her TSH was 4.09 mIU/mL (0.358-3.74) and free T4 was 1.29 ng/dL (0.76-1.46). DHEA-S was 14 mcg/dL (13-130). She was started on stress dose steroids with rapid improvement in BP, hyponatremia, and symptoms. GAD-65 antibodies were above 250 IU/mL and 21-hydroxylase antibodies were positive. Her TPO antibodies were negative. Non-insulin diabetes medications were stopped and she was discharged home after stabilization on prednisone 5 mg daily and fludrocortisone 0.1 mg daily. This patient has an atypical presentation of polyglandular autoimmune syndrome type 2 (PAS2). She presented with an Addisons crisis at the age of 66. She was already diagnosed with hypothyroidism and insulin requiring diabetes and evidence of vitiligo. A majority of patients with PAS2 are female and present in their 20s to 40s with primary adrenal insufficiency and primary hypothyroidism. Her initial manifestation was hypothyroidism and then diabetes and vitiligo with adrenal insufficiency many years later. Her random cortisol was not suppressed and this lead to a delay in her diagnosis. This was likely due to oral estrogen therapy raising cortisol-binding globulin. Her elevated baseline ACTH and lack of response to ACTH stimulation confirmed her diagnosis of primary adrenal insufficiency. An ACTH stimulation test was repeated as an outpatient with similar response. This case highlights the importance of provocative testing for adrenal disorders and testing for autoimmune causes of endocrine disorders when patients are not responding as expected.
Presentation: Friday, June 16, 2023
FRI269 Two Cases Of Familial Polyglandular Autoimmune Syndrome Type II Presenting With Adrenal Insufficiency Precipitated By SARS-CoV-2 Infection
Authors: Sassic Jessica , Hosein Nadeen , Jackson Gavin 
Published: October 2023

Abstract
Disclosure: J. Sassic: None. N. Hosein: None. G. Jackson: None.
Introduction: Polyglandular autoimmune syndrome (PGA) type II is characterized primarily by autoimmune adrenal disease and thyroid disease. Additionally, about 50% of patients will experience autoimmune diabetes mellitus. The incidence of PGA type II is around 1:20,000 but shows strong familial clustering, and predominantly affects women in a 3:1 ratio. Here we report a case of two patients, a woman and her son, who were diagnosed 6 months apart with type II PGA who presented with adrenal insufficiency acutely affected by SARS-CoV-2 infection. Clinical Case: Patient 1 is a 59 year-old female with history significant for previously-diagnosed autoimmune thyroiditis who presented with complaint of generalized fatigue and weight loss for months following a SARS-CoV-2 infection, who was found to have severe hyponatremia with serum sodium of 106 mmol/L (137-145 mmol/L) and was admitted to the intensive care unit. There, she received cosyntropin testing which revealed severe adrenal insufficiency, with post-cosyntropin cortisol level at 1.2 mcg/dL (&gt;14 mcg/dL). Anti-21-hydroxylase antibodies were positive. Her A1c was found to be 5.8% (&lt;5.7%), indicating prediabetes in a patient with BMI of 18.5 kg/m2. Glutamic acid decarboxylase antibodies were tested and were also positive. Patient’s sodium was repleted and she was tapered from stress-dose to physiologic steroid dosing and was discharged on hydrocortisone and fludrocortisone. About 6 months later, Patient 2, a 25-year-old male and the son of Patient 1 presented to the emergency department with complaint of a week of nausea and vomiting, and three months of generalized fatigue. He was found to be SARS-CoV-2 positive and was also hyponatremic with serum sodium of 122 mmol/L. He also received cosyntropin testing which was revealed undetectably low cortisol levels both pre- and post-cosyntropin administration. Anti-21-hydroxylase antibodies and anti-thyroid peroxidase antibodies were positive, the latter at 243.3 IU/mL (&lt;5.61 IU/mL). Patient responded well to stress-dose steroids and normal saline to normalize his sodium levels. Due to his mother’s positive antibodies, glutamic acid decarboxylase, anti-islet, and anti-insulin antibodies were also tested, which were negative. Patient was discharged on physiologic hydrocortisone and fludrocortisone. Conclusion: Polyglandular autoimmune syndrome is a relatively uncommon disease but with strong polygenic inheritance. This case was an interesting presentation where SARS-CoV-2 infection likely precipitated the symptoms and acute effects of adrenal insufficiency. Additionally, knowledge of the patient’s family history resulted in rapid diagnosis and management of the patient’s underlying pathophysiology.
Presentation: Friday, June 16, 2023
SAT267 BMP4, GDF11 And TGFβ2 Repress Adrenal Cell Cortisol Production By Blocking CYP17A1 And CYP11B1 Expression
Authors: Fischbach Emily Catherine , Lopez Antoine-Guy , Ullenbruch Matthew , Rege Juilee , Rainey William E 
Published: October 2023

Abstract
Disclosure: E.C. Fischbach: None. A. Lopez: None. M. Ullenbruch: None. J. Rege: None. W.E. Rainey: None.
Introduction: The adrenal cortex is responsible for the biosynthesis of multiple steroid hormones that regulate electrolyte and carbohydrate balance. Cortisol, the principal glucocorticoid in humans, is primarily produced in the middle zone of the cortex known as the zona fasciculata (ZF). The enzymes responsible for cortisol biosynthesis include cytochrome P450c17 (17α-hydroxylase), encoded by CYP17A1 and cytochrome P450c11 (11β-hydroxylase), encoded by CYP11B1. Several paracrine/autocrine regulators, including members of the transforming growth factor beta (TGFβ) superfamily, have been implicated in controlling adrenocortical cell homeostasis and steroid hormone production. Previously, we reported a bone morphogenetic protein 4 (BMP4) expression gradient in the adrenal cortex with higher levels in the zona glomerulosa (ZG) and outer ZF compared to the zona reticularis (ZR). In this study, we sought to compare adrenal expression of members of the TGFβ family including BMP4, growth differentiation factor 11 (GDF11), and transforming growth factor beta 2 (TGFβ2), and determine their effect on adrenal cell cortisol biosynthesis. Methods: Growth factor mRNA levels were studied using microarray analysis of laser captured ZG, ZF and ZR from human adrenals. The adrenal cell line, HAC15 was used to determine the effects of the TGFβ family members alone and in combination. Output measures included cell cortisol production and mRNA levels of steroidogenic enzymes using ELISA and quantitative RT-PCR, respectively. Results: Microarray analysis indicated higher mRNA levels of BMP4, GDF11 and TGFβ2 in the ZG compared with the ZF and ZR regions of the adrenal. Treatment of HAC15 cells with either BMP4 (50 ng/mL), GDF11 (50 ng/mL) or TGFβ2 (10 ng/mL) significantly inhibited cortisol production, as well as CYP11B1 and CYP17A1 mRNA levels. The inhibition was observed under basal and forskolin-stimulated conditions. Furthermore, the inhibitory effects on cortisol production and enzyme expression were additive when factors were added together. Summary: Overall, our findings suggest that the human adrenal has a gradient of multiple members of the TGFβ family. The additive action of these growth factors on adrenal cell differentiation may explain, in part, the inability of the ZG to produce cortisol and its low expression of CYP11B1 and CYP17A1.
Presentation: Saturday, June 17, 2023