bluuebunny/crossref_metadata_2025 huggingface dataset:
9177 "Double Trouble: Exploring Moya Moya Syndrome In The Context Of Graves' Disease - A Case Report"
Authors: Agrawal Bhavika , Mehta Vidhi , Naseem Rabia , Patel Harshil
Published: October 2024

Disclosure: B. Agrawal: None. V. mehta: None. R. Naseem: None. H. patel: None.

Introduction: Moyamoya syndrome, characterized by progressive intimal hyperplasia in the terminal parts of the internal carotid artery and the circle of Willis, leads to stenosis followed by collateralization, resulting in a characteristic "smoky" appearance on angiography, known as "Moya-Moya." This rare vasculopathy has shown an increasing association with Graves' disease. Case Presentation: A 37-year-old female with a medical history of SLE, Graves' disease, Sjogren's syndrome, and hypertension presented with left facial droop and weakness lasting 24 hours. She had a similar episode four months prior, which resolved spontaneously. Initial CT scan revealed scattered areas of parenchymal attenuation in the periventricular white matter. Further imaging with CTA demonstrated steno-occlusive distal intracranial internal carotid artery and bilateral M1 segments, characteristic of Moyamoya syndrome. Concurrently, she had an enlarged multinodular goiter. Laboratory findings showed high t4 and low TSH due to non-compliance to medications. MRI confirmed a multifocal acute/subacute infarct in the right MCA territory. Vasculitis and hypercoagulable work up was negative. Neurosurgical intervention was deferred, and within 24 hours, the patient experienced complete resolution of symptoms with methimazole, aspirin and statin. Discussion Moyamoya syndrome, predominantly affecting Japanese and South Asian populations, often exhibits familial predisposition linked to the RNF213 gene. Typically affecting females with a mean age of 33, Moyamoya in Graves' disease presents with ischemic stroke or TIA during thyrotoxic states, characterized by suppressed TSH and elevated T4, which usually resolves with anti-thyroid therapy. Elevated thyroid autoantibodies are frequently observed in the cases reported so far. However, in contrast to strokes associated with Graves' disease, other autoimmune conditions such as T1DM and neurofibromatosis often manifest with haemorrhagic strokes. Angiography commonly reveals unilateral or asymmetrical vascular lesions, possibly linked to thyrotoxic states increasing cerebral metabolism and inducing multiple stenoses. Conclusion: In female patients presenting with transient ischemic attack (TIA) or ischemic stroke and diagnosed with Moyamoya syndrome on angiography, thyroid disorder screening is crucial. Elevated thyroid antibodies indicate a potential thyroid disorder, warranting initiation of anti-thyroid drugs alongside stroke management protocols to alleviate symptoms. This aims to improve patient outcomes by addressing both vascular and endocrine factors contributing to the pathology of Moyamoya syndrome in this specific demographic.

Presentation: 6/1/2024
9234 A Case of Gigantism Due to An AIP Gene Mutation: Implications for Genetic Counseling and Preimplantation Genetic Diagnosis
Authors: Serebro Merav , Bach Michal Yacobi , Zohar Naomi Even , Reches Adi , Greenman Yona
Published: October 2024

Disclosure: M. Serebro: None. M. Yacobi Bach: None. N. Even Zohar: None. A. Reches: None. Y. Greenman: None.

From the age of 17 the patient experienced accelerated growth, facial changes, and enlargement of hands and feet. Despite having a sister already diagnosed with acromegaly, the patient did not undergo endocrine evaluation until the age of 25, when he was diagnosed with gigantism. Magnetic resonance imaging (MRI) revealed the presence of a macroadenoma with suprasellar extension reaching the optic chiasm. The patient underwent transsphenoidal surgery and excision of a sparsely granulated somatotroph adenoma that was Pit1 positive and exhibited weak immunostaining for growth hormone (GH). Insulin-like growth factor 1 (IGF1) levels normalized after surgery, and a fasting GH level was 0.6 ng/ml. Given the family history and the early onset of the disease, genetic counseling was recommended. Genetic testing revealed a heterozygote likely pathogenic variant in the AIP gene (c.713G>A). This finding prompted the recommendation for genetic testing of all first-degree relatives. The patient and his wife, who desired to have children, were referred to obstetrics and gynecology for pregestational diagnosis. Family segregation testing indicated that the patient's mother also carried the same AIP variant. Preimplantation genetic diagnosis (PGD) was conducted, revealing that 11 out of 20 embryos were carriers of the AIP variant. The non-carrier embryos were selected for implantation, and pregnancy was achieved. Efforts to inform first-degree relatives about the importance of genetic testing were undertaken, and one sister was tested and found to be healthy. Other siblings have not yet been tested. The patient's mother, identified as an AIP variant carrier, underwent endocrine laboratory tests that showed GH, IGF1, and prolactin levels within the normal range. Brain MRI did not reveal a pituitary lesion.This case highlights the significance of genetic counseling and testing in patients with familial endocrine disorders, the potential implications of a molecular diagnosis of a pathogenic AIP variant, and the challenges faced in reproductive decision-making for affected individuals and their families.

Presentation: 6/3/2024
6530 A Case of Lymphocytic Hypophysitis Followed by Acromegaly
Authors: Medina Mora L , Htoo S , Sanchez Ruiz A , Harshan M , Liu M
Published: October 2024

Disclosure: L. Medina Mora: None. S. Htoo: None. A. Sanchez Ruiz: None. M. Harshan: None. M. Liu: None.

Introduction: Acromegaly, a disorder with an estimated incidence of 0.28-0.4 cases per 100,000 individuals, is characterized by overproduction of growth hormone. Features include acral enlargement, frontal bossing, macrognathia, headaches, and hyperhidrosis. Comorbidities include hypertension, sleep apnea, type 2 diabetes, and cardiomyopathies. Hypophysitis, with an incidence of 1 in 9 million individuals, is an even rarer condition that involves pituitary gland inflammation. It can often lead to hormonal dysfunction and compression of surrounding structures. It is extremely rare for both acromegaly and hypophysitis to occur in the same individual. In this case report, we present a patient who developed lymphocytic hypophysitis followed by acromegaly. Case Report: A 58-year-old woman with a history of hypertension and lymphocytic hypophysitis (discovered during a workup of headaches without hormone derangement) returned to the clinic two years after complaining of progressive enlargement of her hands and feet, fragmented sleep, insomnia, and coarsening of facial features. She was found to have elevated IGF-1 (886 ng/mL; reference range: 48-235 ng/mL) and growth hormone levels (86.9 ng/mL; reference range: 0.12-9.88 ng/mL). An MRI showed a 2.9 x 3.2 x 3.8 cm suprasellar/sellar mass causing pressure on the optic chiasm, hypothalamus, third ventricle and midbrain. The patient underwent transsphenoidal resection (TSR), which was incomplete because the tumor was located behind the pituitary gland, followed by a right craniotomy to remove the remaining tumor. The tumor specimen stained positive for GH and PIT 1, exhibiting elevated proliferative indices (>2 mitotic figures per 10HPF, Ki-67 20%) and p53 labeling (5%). After the surgery, the patient's IGF-1 and GH levels normalized. However, her postoperative course was complicated by third cranial nerve palsy, diabetes insipidus, hypothyroidism, and secondary adrenal insufficiency. Discussion: Although TSR is the first-line treatment for most patients with acromegaly, it may not always result in a complete cure, as almost 50% of patients with macroadenomas do not achieve full surgical recovery. For persistent disease, medical therapy or transcranial surgery may be required. The tumor in this case was atypically proliferative, which was likely why GH and IGF-1 levels rose rapidly, manifesting in acromegalic symptoms in our patient two years after diagnosis of lymphocytic hypophysitis. The natural history of hypophysitis typically progresses from inflammation to fibrosis and subsequently to atrophy of the pituitary cells. This atrophy may cause changes in regulatory hormones that promote tumorigenesis. Therefore, hypophysitis may stimulate adenoma formation leading to acromegaly. More research is needed to characterize the relationship between these two rare entities.

Presentation: 6/2/2024
7405 A Case of Pituitary Apoplexy in Pregnancy
Authors: Esaki Yumiko , Vates George Edward , Shafiq Ismat
Published: October 2024

Disclosure: Y. Esaki: None. G.E. Vates: None. I. Shafiq: None.

Pituitary apoplexy is a rare cause of headache during pregnancy. The prevalence of pituitary apoplexy during gestation and the peripartum period is estimated to be 1 in 10,000 term pregnancies. Approximately 42-47% of these patients were known to have a pituitary lesion especially history of prolactinoma. Here we report a pregnant female developing pituitary apoplexy after discontinuation of dopamine agonist. A 27-year-old female was initially diagnosed with prolactinoma with elevated prolactin of 158.1 ng/ml (3.0-300 ng/ml). MRI revealed a 1.3 cm x 1.5 cm x 1.4 cm pituitary mass with solid and cystic components. Treatment with cabergoline 0.25 mg twice weekly was started. After 2 years of treatment, prolactin was 74.2 ng/ml and the size of the adenoma decreased to 1.0 cm x 1.2 cm x 1.3 cm. One year later, she became pregnant at age 30 and discontinued cabergoline after 7 weeks of gestation. At 12 weeks of gestation, she presented to the Emergency Department for 3 days of severe headaches associated with emesis. The ED work up includes prolactin > 2,000 ng/ml. MRI head without contrast demonstrated an interval increase in size to 1.5 cm x 1.7 cm with hemorrhagic component. Urgent evaluation by a Neuro-ophthalmologist revealed no clinical evidence of optic neuropathy. Blood work showed AM cortisol 2.3 mcg/dl (4.0-22.0 mcg/dl), TSH 0.5 mIU/L (0.4-0.5 mIU/L), FT4 0.6 ng/dl (0.8-1.8 ng/dl). Cabergoline 0.25 mg twice weekly was restarted to control the size of the tumor as well as hydrocortisone and levothyroxine for central adrenal insufficiency and hypothyroidism respectively. Four weeks later, she was 17 weeks pregnant. MRI showed a further increase in the size of the adenoma, now measuring 1.8 cm x 2.0 cm x 1.3 cm. The lesion now extended into the suprasellar cistern, affecting the optic chiasm. She underwent the transsphenoidal resection of the pituitary adenoma at 18 weeks of gestation due to the increase in size of the tumor. The final pathology was consistent with pituitary adenoma, lactotroph cell type, WHO grade 1. MRI obtained 3 months post-operation showed no residual T1 hyperintense tumor signal. There was a cyst-like expansion of the sella turcica with a decreased mass effect on the optic chiasm. She delivered her healthy baby at 40 weeks and 5 days via vaginal delivery. She received stress dose steroid during labor, then was discharged home with hydrocortisone 10 mg twice daily. She is doing well following the delivery and breastfeeding the baby. This case illustrates a rare case of pituitary apoplexy during pregnancy in a patient with prolactinoma. Pituitary apoplexy should be considered as a differential diagnosis when pregnant patients develop an acute, severe headache, especially those with an underlying pituitary adenoma. It is critical to assess and treat the hormonal deficiencies. For prolactinoma, pharmacological therapy can be initiated. Surgery is considered if the medical therapy fails.

Presentation: 6/3/2024
6823 A Puzzling Case: Complete Regression of Pituitary Macroadenoma
Authors: Mazengia N T , Vangipuram D R , Majumdar S K
Published: October 2024

Disclosure: N.T. Mazengia: None. D.R. Vangipuram: None. S.K. Majumdar: None.

Introduction: The natural course of nonfunctioning pituitary macroadenomas remains poorly understood, largely because the majority are surgically treated [1]. There are a few case reports describing the spontaneous regression of nonfunctioning pituitary macroadenomas. Here we describe a case of pituitary macroadenoma which completely regressed following childbirth and two months of cabergoline therapy. Case Presentation: A 25-year-old female presented with bilateral nipple discharge and persistently elevated prolactin levels ranging from 31µg/liter to 45.9 µg/liter (NV <25 µg/L). She did not have any signs and symptoms of hypo or hypersecretion of the pituitary hormones. All her pituitary hormone levels were within normal range. Initial MRI revealed a pituitary mass measuring 9x13x9mm (AP, TR, CC). Given her lack of symptoms, the decision was made to follow up without any intervention. A repeat MRI after one year showed the size of the mass to be 11x13x11mm. Two years after her initial diagnosis, the patient had a spontaneous pregnancy, during which she remained asymptomatic with normal pituitary hormone levels. She had Cesarean delivery at term with no complication. She was lost to follow-up for about two years after childbirth then presented with breast discomfort and galactorrhea at which time, she was started on cabergoline. A subsequent MRI done two months after the start of cabergoline showed asymmetric fullness of the pituitary gland on the right with no discrete measurable lesion. Conclusion: We currently lack a comprehensive explanation for the regression observed in our patient. Silent ischemia may have played a role, particularly considering the natural increase in pituitary gland size during pregnancy. We are not sure if the regression can be solely attributed to the two months of cabergoline treatment. In asymptomatic patients diagnosed with nonfunctioning pituitary macroadenoma, tumor regression can potentially occur through either a "wait and watch" strategy or medical management using dopamine agonists, specifically cabergoline. However, the use of cabergoline as a primary treatment for asymptomatic nonfunctioning pituitary adenoma warrants further investigation. This is especially crucial given that, in most cases, nonfunctioning pituitary macroadenomas tend to increase in size during follow-up without any intervention. References: 1. Dekkers, O.M., A.M. Pereira, and J.A. Romijn, Treatment and follow-up of clinicallynonfunctioning pituitary macroadenomas. J Clin Endocrinol Metab, 2008. 93(10): p. 3717-26.

Presentation: 6/1/2024
12533 A Rare Case of a Growth Hormone Releasing Hormone-Secreting Pulmonary Carcinoid Tumor: Clinical Presentation and Management
Authors: Yaseen Ibrahim , Woods Conor , O'Shea Donal Brendan , Crowley Rachel K , O’Toole Dermot , Almeamar Hussein
Published: October 2024

Disclosure: I. Yaseen: None. C. Woods: None. D.B. O'Shea: None. R.K. Crowley: None. D. O'Toole: None. H. Almeamar: None.

We present a rare case of an ectopic Growth Hormone Releasing Hormone (GHRH)-secreting pulmonary neoplasm manifesting with acromegaly. A 62-year-old woman presented with Bell’s palsy. An incidental lung mass proved to be a 17.5cm carcinoid tumor, DOTATOC-avid, with bony and liver metastases, Ki67 1% on lung and bone biopsy. After pulmonary service referral to endocrinology, she was noted to have acromegalic features, the most troubling of which was macroglossia associated with mouth ulceration. IGF1 was 549ug/L (57-186), random growth hormone was 225. GHRH in serum was 1937ng/ml (reference < 60). MR Pituitary revealed hyperplasia.The multidisciplinary team discussion was that the lung lesion was unresectable, therefore she was commenced on somatuline autogel 120mg every 28 days and an opinion requested re suitability for Peptide Receptor Radionuclide Therapy. After 6 months of therapy IGF1 normalised to 90ug /L. GHRH reduced to 1056ng/L.Imaging at 8 months showed stability of lung primary and bone / liver metastases, with no benefit likely from PRRT at this time. This case highlights the importance of considering endocrine syndromes in the setting of a lung mass. The prevalence of acromegaly in Ireland is 69 per million people; this is the second Irish case known of GHRH-associated GH excess. Ectopic GH-secreting pulmonary tumors are a rare but important differential in patients presenting with acromegalic features. Complete surgical resection can be curative, underlining the significance of a multidisciplinary approach in management, encompassing endocrinology, thoracic surgery, and pathology. This case of successful medical management adds to the limited literature on such tumors and underscores the potential for non-pituitary neoplasms to cause systemic endocrinopathies.

Presentation: 6/1/2024
8036 A Rare Case of Cushing’s Syndrome Caused by a Pulmonary Carcinoid Tumor
Authors: Tep Amanda C , Wolf Fawn M
Published: October 2024

Disclosure: A.C. Tep: None. F.M. Wolf: None.

Introduction: The most common causes of ectopic ACTH (adrenocorticotropic hormone) syndrome include bronchial carcinoid tumors and other neuroendocrine tumors. Ectopic ACTH syndrome (EAS) can be difficult to diagnose. Differentiating Cushing’s disease and EAS is difficult, as ACTH-secreting tumors are often small and easily missed on imaging. Case Presentation: A 32-year-old male with a history of hypothyroidism presented with a 6-month history of facial rounding. He also noticed a dorsocervical fat pad, muscle weakness in the extremities, easy bruising, and elevated blood pressure progressing over the same period. A 24-hour urine free cortisol was elevated to 1797 mcg. Two salivary cortisol tests performed 1 hour after the patient’s usual bedtime had values of 4.4 ug/dl and > 1.000 ug/dl. Both the urine and salivary cortisol results were exceedingly high. ACTH was elevated (150 pg/ml). An MRI of the pituitary gland was normal without evidence of an adenoma. Frequently, ACTH-secreting pituitary adenomas are small enough that they are missed on MRI; however, given our patient’s rapid clinical presentation, additional imaging was performed to identify an ectopic source. A CT Chest/Abdomen/Pelvis showed a 1.2 cm nodule in the right middle lobe of the lung. The right middle lobe was resected, and pathology revealed a carcinoid tumor. His cortisol levels slowly decreased postoperatively and eventually normalized. At his one-month post-operative visit, his symptoms were all improving but not yet resolved. Discussion: This patient was found to have Cushing's syndrome due to ectopic ACTH production from a pulmonary carcinoid tumor. The patient demonstrated clinical improvement after resection of the tumor. Pulmonary carcinoid tumors are rare neuroendocrine epithelial tumors that account for 2-5% of all lung tumors. The annual incidence of these tumors is 2.3-2.8 cases per million people. Endogenous Cushing's syndrome is either ACTH-dependent or ACTH-independent. In ACTH-dependent Cushing's syndrome, the ACTH can either be from the pituitary or an ectopic source. Once ACTH-dependent disease is confirmed, a pituitary MRI is performed to evaluate for an ACTH-secreting pituitary adenoma; this is called Cushing’s disease. Some patients undergo inferior petrosal sinus sampling to confirm the source is central and to determine laterality before transsphenoidal resection of the adenoma. If the source of ACTH is not from the pituitary, obtaining a CT or MRI of the chest and abdomen locates tumors in most patients. At times a functional study, such as an octreotide or PET-DOTATE scan, is done to confirm the diagnosis before proceeding with surgical resection to avoid unnecessary removal of an incidental tumor. Ectopic ACTH production often causes a more rapid progression of Cushingoid features, which can be a clue to the diagnosis of this condition.

Presentation: 6/1/2024
7735 A Rare Case of Paraganglioma in Pregnancy
Authors: Kreit Helen , Patel Janki , Shah Neel L , Guttenberg Katie B
Published: October 2024

Disclosure: H. Kreit: None. J. Patel: None. N.L. Shah: None. K.B. Guttenberg: None.

Introduction: Paragangliomas are rare neuroendocrine tumors that consist of an abnormal growth of chromaffin cells. Exceptionally rare is a paraganglioma in pregnancy. Case Report: A 30-year-old woman presented at 21 weeks gestation with a syncopal episode while ambulatory at work. She reported dizziness, palpitations, sweating, and dyspnea prior to this episode. In the Emergency Department, she was found to have supraventricular tachycardia (SVT) with a heart rate (HR) of 170 beats per minute that resolved after vagal maneuvers. Initial evaluation, including thyroid function tests and echocardiogram, was unremarkable. Symptoms were thought to be due pregnancy, and she was discharged home. She continued to report intermittent palpitations, sweating, and dizziness that resolved spontaneously. Due to her tachycardia and persistent symptoms, biochemical evaluation for pheochromocytoma was obtained at 30 weeks gestation. This was notable for elevated 24 hour urine normetanephrine (4462 mcg, normal 40-412 mcg), normal 24 hour urine metanephrine (85 mcg, normal 25-222 mcg), elevated plasma normetanephrine (1334.7 pg/mL, normal < 148 pg/mL), and normal plasma metanephrine (42.8 pg/mL, normal < 57 pg/mL). MRI abdomen and pelvis without contrast was unremarkable. She was readmitted to the hospital and started on doxazosin. This was followed by initiation of metoprolol and a high sodium diet. C-section was planned for 37 weeks gestation. One day prior to her scheduled C-section, she presented to the hospital with contractions. She was diagnosed with hypertensive emergency complicated by pulmonary edema. Emergent C-section was performed. MRI abdomen and pelvis with contrast subsequently revealed bilateral enhancing retroperitoneal masses, measuring 4.4 cm on the right and 3.7 cm on the left. Retroperitoneal masses were resected 3 months after delivery without complication. Pathology showed a left-sided paraganglioma and a right-sided paraganglioma of undetermined malignant potential. Genetic testing was recommended. Conclusion: Paraganglioma in pregnancy is very rare. If left unrecognized and untreated, it carries increased risk of mortality to both the fetus and mother. A multidisciplinary approach with close monitoring is crucial for management.

Presentation: 6/1/2024
9375 Acth-Producing Pituitary Carcinoma in the Falx Cerebri and Other Unusual Locations
Authors: Vargas Jose Edmond Esquivel , Guillén Alejandro Cob , Santos Rojo Ana B , Lo Anthony Hong
Published: October 2024

Disclosure: J.E. Esquivel Vargas: None. A. Cob Guillén: None. A.B. Santos Rojo: None. A. Hong Lo: None.

ACTH-producing Pituitary Carcinoma in the Falx Cerebri and other unusual locations Background: Pituitary carcinoma is a condition defined by metastasis of a pituitary tumor to a distant location. Pituitary carcinomas are very rare and account for approximately 0.12% of adenohypophyseal tumors (1). Clinical case: We present a case of a 29-year-old female who was followed up in our Endocrinology Department. Past medical history included the diagnosis of Cushing Disease and transsphenoidal tumor resection at 12 years of age, followed by transcranial resection two years later because of persistently elevated adrenocorticotropic hormone (ACTH). Despite the surgical management, the patient persisted with increased ACTH and hypercortisolism, so bilateral adrenalectomy was performed a year later. Two years after the procedure, the patient presented with a newly diagnosed pituitary macroadenoma, so the diagnosis of Nelson Syndrome was made. Linear accelerator radiotherapy was given, which reduced the size of the tumor. Later, multiple imaging studies showed multiple lesions on the falx cerebri, posterior clinoid process, retroclival region, cerebellopontine angle, pterygopalatine fossa, infratentorial region, and posterior ethmoidal cells. Biopsy and immunohistochemistry of the falx cerebri lesions described ACTH-producing pituitary adenocarcinoma. Treatment was given with intramuscular octreotide, dabrafenib, and trametinib. Despite persistently elevated ACTH levels, the patient has since remained clinically stable, without new development or worsening of symptoms. Conclusion: There are 3 unique aspects of our case. First, we reported an unusual presentation of this disease, because the patient in our case was a female with an early age of onset, in contrast with the reported literature. Second, this is the first reported case demonstrating pituitary carcinoma in the falx cerebri. Third, the prognosis of pituitary carcinoma is very poor, and mortality is extremely high, however, the patient in our case has been followed up for 7 years since the diagnosis of the metastatic lesions and has remained clinically stable. References: 1. Castellanos LE, Gutierrez C, Smith T, Laws ER, Iorgulescu JB. Epidemiology of common and uncommon adult pituitary tumors in the U.S. according to the 2017 World Health Organization classification. Pituitary. 2022;25(1):201-209.

Presentation: 6/1/2024
7227 Acute Hyponatremia Following Initiation of Antidepressant in Patient on Desmopressin Treatment for AVP Deficiency
Authors: Horowitz Maxwell Ethan , Gao Yiqi , Abraham Smita Baid , Kishore Preeti
Published: October 2024

Disclosure: M.E. Horowitz: None. Y. Gao: None. S.B. Abraham: None. P. Kishore: None.

Introduction: Intranasal desmopressin (DDAVP) is indicated as antidiuretic replacement therapy in arginine vasopressin (AVP) deficiency. It increases water permeability in the distal nephron, reducing urine output, increasing urine osmolality, and decreasing serum osmolality. Treatment is titrated to normalize serum sodium and urine output (UOP). Initiation of medications affecting sodium balance or fluid status may lead to abnormalities in these markers. One of these is escitalopram, an antidepressant which can cause hyponatremia attributed to inappropriate AVP secretion. We report a case of acute hyponatremia in a patient with previously stable sodium on chronic DDAVP who was started on escitalopram. Clinical Case: A 44-year-old female with history of a craniopharyngioma resection in 2007 complicated by AVP deficiency on chronic DDAVP, bipolar disorder, and depression presented with nausea, vomiting, and dizziness for two days. Patient was found to be hyponatremic to 118 mEq/L (135-145 mEq/L). Sodium checked one month prior was 135 mEq/L, and historically was never less than 130 mEq/L since 2008. DDAVP was prescribed since resection with few dose changes, at this time four 10mcg sprays in each nostril three times daily since 2020. Escitalopram 5mg daily was initiated two months prior. Desmopressin was held in the setting of hyponatremia, which resolved appropriately to 135 mEq/L over the first five days. During this time, the patient complained of large volume diuresis at ∼three liters daily. On day six, sodium acutely increased to 146 mEq/L; subcutaneous (SC) DDAVP was given and sodium normalized. UOP decreased significantly over the next 24 hours, but large volume diuresis resumed thereafter. On day 10, DDAVP SC was given, again decreasing UOP for 24 hours. Psychiatry recommended continuing escitalopram given improvement in psychiatric symptoms since initiation. Upon discharge, the patient was prescribed DDAVP two 10mcg sprays in each nostril nightly, a significant reduction compared to her prior dose. Sodium rechecked one week later remained within normal limits. Clinical Lessons: This effect of combination DDAVP and escitalopram has not been reported previously. Prescribers should be aware of the potential for hyponatremia and the need to adjust DDAVP dose in combined use. To avoid these risks in patients on chronic DDAVP, the side effects of antidepressants and antipsychotics should be reviewed prior to initiation.

Presentation: 6/2/2024
7422 Adipsic Diabetes Insipidus Following Pituitary Macroadenoma Resection
Authors: Chippior Jessica , Ghalib Luma
Published: October 2024

Disclosure: J. Chippior: None. L. Ghalib: None.

A 44 year-old female with a PMH of primary hypothyroidism, and a pituitary macroadenoma that was lost to follow up, presented to the ED with a chief complaint of an acute headache and decreased visual acuity involving the right eye over the past year. Patient was found to have a large, homogenous suprasellar mass with the largest dimension measuring 6.3 cm in size, and causing displacement of the optic chiasm. Initial hormonal workup was most notable for elevated prolactin at 128 ng/ml (3.3-26.7 ng/ml), which was slightly lower than when it was previously measured 10 years ago. The patient was taken to the OR for transsphenoidal endoscopic partial resection, but within 24 hours of post-op, she developed hypernatremia at 153 mmol/dL (135-145 mmol/dL) that was suspected to be secondary to diabetes insipidus (DI). In addition, she also suffered several small strokes involving her right midbrain and basal ganglia. She required multiple doses of DDAVP throughout her stay and this was ultimately continued upon discharge. Unfortunately, as follow up MRI had shown residual tumor within the third ventricle, she returned for a 2nd resection but once again suffered additional post-operative complications. The patient experienced additional strokes involving the right frontal and parietal lobes, and her DI became more labile than before, with her serum sodium peaking at 172 mmol/dL. Despite such a high degree of hypernatremia, she did not demonstrate any signs of thirst or any desire to access free water, even after her post-stroke encephalopathy had largely resolved. With less than 100 severe cases documented over the past four decades, it was suspected that the patient had a rare form of DI known as “adipsic DI”. Osmoreceptors within the hypothalamus can trigger the release of ADH or stimulate thirst, with the former requiring a smaller change in serum osmolality to generate such a response. Pituitary surgery involves manipulation of the infundibulum and any inadvertent severing can prevent ADH’s ability to travel from the hypothalamus to the posterior pituitary, subsequently leading to DI. The majority of patients with post-op DI increase their free water intake and subsequently do not develop hypernatremia. Those with adipsic DI lack this compensatory mechanism which leads to the electrolyte disturbance, and carries a higher risk of morbidity and mortality than those with typical DI. Following her second surgery, our patient was discharged with DDAVP once again but this time with a higher dose and frequency. She’s had numerous hospital readmissions since then for altered mental status in the setting of hypernatremia as she still struggles to meet her free water intake and continuously relies on her family for reminders. Though her case is certainly not typical, it highlights the added complexity of managing adipsic DI as it relies not only on DDAVP replacement, but replicating what is supposed to be an innate behavior.

Presentation: 6/3/2024
8230 Adrenal Crisis, Unrevealing the Impact of Immigration on Central Adrenal Insufficiency
Authors: Sacoto Daniel Hernan , Madani Kulsum , Patel Dhara , De Rosairo Anne , Rai Gur Kiratt , Belokovskaya Regina , Franco-Akel Alberto A
Published: October 2024

Disclosure: D.H. Sacoto: None. K. Madani: None. D. Patel: None. A. De Rosairo: None. G. Rai: None. R. Belokovskaya: None. A.A. Franco-Akel: None.

Introduction: Even though patients with secondary adrenal insufficiency (AI) may go through life without an episode of adrenal crisis, there is a 50% chance of developing it. Around 90% have a known precipitating, with infections and surgery being frequent causes. However, emotional stress is unrecognized. With the recent increase in worldwide immigration, it is important to recognize these as potential triggers in those with AI. Here, we present a case of adrenal crisis triggered by immigration. Case presentation: A 41-year-old female diagnosed eighteen years ago with Sheehan syndrome, with unknown replacement therapy status, is brought to ED for altered mental status. One week before, she crossed the Mexican-US border as an illegal immigrant and was hospitalized in Arizona after developing mutism and mood lability. She was initiated and discharged on hormone replacement therapy. She arrived in New York confused with flat affect and impaired recent memory. She was hypotensive (BP: 92/64 mmHg), hyponatremic (Na: 133 mEq/L), and anemic (Hb: 10.6 g/dL). She had an inappropriate normal ACTH of 25 pg/mL (7.2-63.3 pg/mL). MRI findings confirmed empty sella, suggestive of central AI. Additional studies revealed central hypothyroidism (low normal TSH (1.36 uIU/mL), low-normal Free T4 (1.4 ng/dL), gonadotroph dysfunction with low FSH (2.7 IU/L), and low estrogen levels (20 pg/mL) for her age, and low normal prolactin (4.6 ng/mL). After initiating a stress dose of IV hydrocortisone and IV levothyroxine, her affect, memory, mental status, and vital signs (BP: 128/80 mmHg) improved. She was educated regarding the need for maintenance doses as an outpatient. At the one-month follow-up, she continued with a positive response. Discussion: Patients with chronic AI are unable to produce sufficient cortisol and are at risk of acute adrenal crisis when under stress. Stressful situations, including accidents, job interviews, or death in the family, have been described. However, with almost doubling the number of people entering the US without prior authorization between 2022 and 2023, immigration, which poses physical and emotional stress, certainty will become a matter of importance for those with AI. Guidelines to manage cortisol replacement in times of fever, infections, trauma, surgery, or severe pain are available. However, it is more difficult to define how emotional and psychological challenges affect the stress response, mainly because each challenge is unique. Therefore, it is important to advocate for policies to provide medical alert bracelets to immigrants with known AI in addition to providing education about emergency injection kits in cases of impending crisis.

Presentation: 6/3/2024
7839 Assess Management of Adrenal Insufficiency in Melanoma Patients Treated with Cancer Immunotherapy
Authors: Lin W , Min L
Published: October 2024

Disclosure: W. Lin: None. L. Min: None.

Despite high prevalent of adrenal insufficiency in melanoma patients treated with cancer immunotherapy, no study has examined the management of adrenal insufficiency in these patients. We performed this retrospective, longitudinal cohort study at Mass General Brigham, Boston, aims to characterize the management of adrenal insufficiency in melanoma patients. Patients were identified through our RPDR search tool, and medical record reviews were conducted. Three patient groups were analyzed: Melanoma with secondary adrenal insufficiency group (Mel_SAI, n=74), Melanoma matched control group (Mel_Con, n=69), and Pituitary macroadenoma-related adrenal insufficiency matched control group (Pit_Con, n=37). We compared self-perceived quality of life, glucocorticoid replacement dose, and clinic visit. Mel_SAI patients exhibited significantly higher incidences of anxiety (43.1%, 95%CI: 32.3-54.6), fatigue (73.6%, 95%CI: 62.4-82.4), pain (58.3%, 95%CI: 46.8-69.0), and insomnia (36.1%, 95%CI: 26.0-47.6), as compared to Pit_Con group (21.6%, 11.4-37.2; 24.3, 13.4-40.1; 29.7%, 17.5-45.8; 5.4%, 1.5-17.7, respectively). The initial hydrocortisone dose was higher for Mel_SAI (30mg qd, 95%CI: 20.5-25.1) compared to Pit_Con (15mg qd, 95%CI: 12.8-18.3). Additionally, the Mel_SAI group had fewer endocrinology clinic visits (3, 95%CI: 3.40-5.04) than the Pit_Con group (9, 95%CI: 7.35-10.9). Subgroup analysis indicated a higher mortality risk (HR 2.61, 95% CI 1.11-6.13) in Mel_SAI patients with fewer than three endocrinology visits over five years. Compared to the Mel_Con group, Mel_SAI patients also showed higher incidences of fatigue (71.6%, 95%CI: 60.5-80.6; Mel_Con: 55.1%, 95%CI: 43.4%-66.2%), but lower rates of depression (25.7%, 95%CI: 17.1-36.7; Mel_Con: 43.5%, 95%CI: 32.4-55.2) and appetite loss (24.3%, 95%CI: 16.0-35.2; Mel_Con: 47.8%, 95%CI: 36.4-59.4). No significant difference in other self-perspective symptoms. Furthermore, Mel-SAI patients had more oncological clinic visits (71, 95%CI: 74.0-109.2) than those in the Mel_Con group (41, 95%CI: 42.1-64.1). Our study suggests that most self-perceived quality of life in the Mel_SAI group is related to melanoma rather than adrenal insufficiency. Therefore, a higher initiating dose of hydrocortisone in melanoma patients with adrenal insufficiency may not be necessary. However, increasing endocrine clinic visits in cancer patients with cancer immunotherapy-related adrenal insufficiency may improve their survival outcomes.

Presentation: 6/3/2024
8589 Case Report of Metastatic NET in a Middle-Aged African American Female
Authors: Anaraki Kimia Saleh , Tsou Han Chen Tom , Ahmed Elham Ahmed , Birhane Tekabe N , Wang Xiaoyan
Published: October 2024

Disclosure: K. Saleh Anaraki: None. H. Tsou: None. E. Ahmed: None. T.N. Birhane: None. X. Wang: None.

Neuroendocrine neoplasms (NEN) is an umbrella term characterizing cancers of both neural and endocrine cells. In addition, depending on the speed of proliferation; Ki-67 levels, they are then classed as either low grade; neuroendocrine tumor (NET), or high grade; neuroendocrine carcinoma (NEC). With more than 12,000 new occurrences detected in the United States year, Neuroendocrine tumors make up approximately 0.5% of all newly diagnosed malignancies with approximately 175,000 people concurrently with this condition hinting at an increase in both prevalence, incidence, but most importantly, survival outcomes. Here we present a case of a well differentiated NET in a 59 year old female with an PMH of HTN, HLD, Osteoarthritis, vitamin D deficiency, who presented to the ED with left sided atypical chest pain lasting for 20 hours. She reports a 5/10 dull to sharp chest pain lasting 5 to 10 seconds localizing to the sternal area with no radiation and episodes of complete pain resolution. She also reports no aggravating or relieving factors or other accompanying symptoms. Workup for cardiac causes was negative but a CT scan to rule out PE revealed incidental findings of liver masses and spine lesions suggestive of metastasis. Liver core biopsy discovered a low grade metastatic well differentiated neuroendocrine tumor with immunohistochemical staining favoring colorectal as the primary origin. In addition, tumor cells were positive for chromogranin, synaptophysin, AE1/AE3 and CDX2, with Ki-67 showing a low proliferative index. CEA and AFP were negative. FDG-PET showed multiple hypodense lesions throughout the liver in both lobes, with a few hypermetabolic soft tissue masses in the root of the mesentery which was consistent with the suggestive finding of metastatic disease. NETs from either the gastroenteropancreatic or respiratory structures account for approximately 65% and 25% of total NETs respectively and are usually the most common sites of origin. It is also important to note the differing incidences of origins among different races as well; such as caucasian patients having more midgut NETs, whereas rectal NETs occur more commonly in other races. It is also important to distinguish that most NENs are NETs which have a slower progression rate, whereas NECs; which have a rapid disease progression, make up approximately 15% of all cases. With most neuroendocrine tumors being asymptomatic, it is often hard to come to a clinical diagnosis at time of presentation due to the various hormone secretions that these tumors produce which can result in unique clinical syndromes. Therefore it is important for clinicians to be aware of the diverse manifestations of this disease as the key step to the management of these rare tumors as well as safeguarding patients who may have a more sinister pathology.

Presentation: 6/2/2024
12432 Chronic Intermittent Hypoxia Impairs Calpain And Caspase-3 Activity In The Hippocampus
Authors: Mabry Steve , Bradshaw Jessica L , Gardner Jennifer J , Wilson Elizabeth Nicole , Yeung Hannah , Cunningham Rebecca L
Published: October 2024

Disclosure: S. Mabry: None. J.L. Bradshaw: None. J.J. Gardner: None. E.N. Wilson: None. H. Yeung: None. R.L. Cunningham: None.

Background: Obstructive sleep apnea (OSA) is a highly prevalent sleeping disorder in the USA with known sex differences in incidence and severity. OSA is associated with memory impairments. However, the mechanisms by which OSA disrupts memory are not fully understood. Calpain and caspase-3 are proteases which regulate synaptic function and memory formation and have been observed to be sensitive to gonadal hormone levels (testosterone, estradiol). OSA has been observed to decrease gonadal hormones. This study examined whether chronic intermittent hypoxia (CIH), a rat model of OSA: (1) induced dysregulation in calpain and caspase-3 activity in the dorsal hippocampus; (2) if these proteases were dependent on circulating gonadal hormones; and (3) if these effects were dependent on sex. Methods: Adult Sprague-Dawley male and female rats were exposed to CIH or normoxic room-air for 14 days. At the conclusion of CIH, rats were sacrificed, and tissues were collected. Plasma was collected to measure circulating gonadal hormones (testosterone, estradiol). Gonadal hormones were extracted from the plasma and analyzed by high throughput multiplex. Brains were flash frozen and dissected for hippocampal subregion isolation. We quantified calpain and caspase-3 cleavage activity by measuring cleaved spectrin within CA1 and CA3 subregions of the dorsal hippocampus. Results: CIH impaired calpain cleavage activity in the CA1 of males, with no effect on calpain activity in the CA1 of females. No effects of CIH or sex on caspase-3 cleavage activity were observed in the CA1. In contrast, caspase-3 cleavage activity was reduced by CIH in the CA3 in females but not males. No effects of CIH or sex were observed on calpain cleavage activity in the CA3. No effects of CIH were observed on gonadal hormones. We observed expected sex differences in testosterone (males higher than females) and estradiol (no sex difference between males and females). Conclusions: Our results indicate that CIH impairs calpain and caspase-3 cleavage activity in a hippocampal subregion- and sex-specific manner. These effects were independent of circulating gonadal hormones. Since the CA1 and CA3 subregions of the dorsal hippocampus are involved in memory consolidation, these cellular changes in calpain and caspase-3 activity could mediate CIH-induced memory impairments, such as impaired recollective memory. These findings could have clinical implications for memory impairments in patients with OSA.

Presentation: 6/2/2024
8037 Ciliopathy Genes are Expressed in the Developing Pituitary Gland and Mature Hormone-Producing Cells
Authors: Athul Sandria W , Jaramillo Natalie , Ellsworth Buffy S
Published: October 2024

Disclosure: S.W. Athul: None. N. Jaramillo: None. B.S. Ellsworth: None.

Primary cilia play critical roles in several signaling pathways including sonic hedgehog and Wnt to help regulate cell differentiation and proliferation. Ciliopathies are a group of disorders associated with genetic mutations resulting in an abnormal formation or structure of the primary cilium. Recently, congenital hypopituitarism was identified in some patients with ciliopathies. To begin to evaluate the role of these genes in pituitary gland function, we used the International Mouse Phenotyping Consortium (IMPC) database to identify several ciliopathy genes that, when mutated, cause pituitary hypoplasia in mice. To determine if primary cilia are present in the somatotrope-like GHFT1-5 cells, ARL13B, a regulatory GTPase protein that is localized to the ciliary membrane, was identified. In the absence of serum, it was seen that the number of cilia present was relatively high, likely as a result of the lower rate of cell division. Gene expression of the ciliopathy genes, Cc2d2a, Mks1, and Pibf1 was detected via RT-qPCR in GHFT1-5 cells. While Mks1 and Pibf1 were expressed at low levels, Cc2d2a was more robustly expressed. Expression of Cc2d2a, Mks1, Pibf1, and Rpgrip1l was observed on adult pituitary glands of C57BL/6 mice. Consistent with active SHH signaling during early pituitary organogenesis we see the expression of Rpgrip1l and Pibf1 in Rathke’s pouch at e10.5, 11.5, and e12.5. ARL13B and α-Tubulin, markers of primary cilia, were used to determine which hormone-producing cell types contain primary cilia in adult and e18.5 C57BL/6 mice. Primary cilia are present in a fraction of all hormone-producing cell types. These studies suggest that primary cilia are present in the pituitary gland during early organogenesis and may also be involved in the function of mature hormone-producing cells. Understanding the function of ciliopathy genes is important for expanding our understanding of congenital hypopituitarism.

Presentation: 6/3/2024
6701 Bilateral Adrenal Hematomas As Initial Presenting Sign Of Lung Adenocarcinoma
Authors: Gumireddy S , Panta R , Shaikh Y
Published: October 2024

Disclosure: S. Gumireddy: None. R. Panta: None. Y. Shaikh: None.

Introduction: Lung cancer typically presents with dyspnea, chest pain, hemoptysis, weight loss, or recurrent pulmonary infections. This case illustrates primary lung adenocarcinoma presenting with abdominal pain and bilateral adrenal hematomas. Clinical Case: 51-year-old male presented to the emergency department with left sided abdominal pain persisting for one week. CT abdomen showed a left suprarenal mass measuring 4.5 x 5 x 4.3cm indicating an acute adrenal hematoma. An MRI showed a partially solid left adrenal lesion that had hemorrhaged and a 1.3cm hemorrhagic nodule in the right adrenal gland. The patient remained hemodynamically stable. Hormonal evaluation done while patient was in the hospital showed renin level 0.417ng/mL/hr, aldosterone level <1.0ng/dL, epinephrine level 312pg/mL, norepinephrine level 333pg/mL, cortisol 11.3, ACTH level 13, plasma metanephrine levels 93pg/mL, plasma normetanephrine levels 111.7pg/mL, DHEA-S 151mcg/dL, potassium 4.1mmol/L, raising concern for hypersecretion. Patient was discharged with plans for outpatient follow-up but was readmitted in two months due to worsening abdominal pain. Repeat imaging revealed an increase in size of adrenal lesions, measuring 3.3 x 3.6 cm within the right adrenal gland and a 6.7 x 6.3 cm heterogeneously enhancing lesion within the left adrenal gland concerning for metastatic disease to bilateral adrenals and to the ileum causing small bowel obstruction. Chest imaging showed a 2.2cm irregular right apical nodule. Subsequent hormonal evaluation showed normalization of plasma metanephrine levels at 15.8pg/mL, renin level 3.314ng/mL/hr, aldosterone level 4.3ng/dL, deoxycorticosterone level 4.8ng/dL, androstenedione level 40ng/dL, plasma normetanephrines 146.4pg/mL. The patient underwent left adrenal gland mass biopsy which showed metastatic poorly differentiated adenocarcinoma of pulmonary origin. Tumor cells were positive for keratin cocktail, TTF1 and synaptophysin supporting the morphologic interpretation. Patient is currently receiving treatment with carboplatin, pemetrexed, and pembrolizumab. Conclusion: Adrenal masses can be unilateral (85%) or bilateral (15%). While most unilateral adrenal masses are benign and nonfunctional, bilateral adrenal masses are likely to be metastatic disease, hemorrhage, infiltrative disease, congenital adrenal hyperplasia, macronodular Cushing’s syndrome, or bilateral cortical adenomas. Although uncommon, our case highlights the importance of considering metastatic disease to the adrenal glands as a potential initial manifestation of primary cancers. The most likely primary cancers to metastasize to the adrenal glands are breast, lung, colon, kidney, and esophagus.

Presentation: 6/1/2024