bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adrenal Insufficiency in an Adolescent Boy With Type 1 Diabetes Mellitus - the Importance of Considering X-Linked Adrenoleukodystrophy
Authors: Wiersma Rebecca , Gupta Ashish , Lund Troy C , Orchard Paul J , Miller Bradley Scott 
Published: May 2021

Abstract
Background: Primary adrenal insufficiency (PAI) is the rare, life-threatening failure of the adrenal glands to produce sufficient glucocorticoids and mineralocorticoids, presenting with fatigue, weakness, weight loss, hyperpigmentation, hypoglycemia, and hypotension. In adults, PAI is primarily autoimmune, occurring independently or in conjunction with thyroiditis and/or Type I diabetes mellitus (T1DM) as a component of Autoimmune Polyglandular Syndrome-2 (APS-2, Schmidt syndrome). APS-2 is rare (prevalence 1 in 20,000) and more common in females with a peak incidence in the third and fourth decades of life. In children, PAI is most often due to congenital adrenal hyperplasia (CAH), followed by autoimmune disease, but as many as 50% of cases of non-CAH pediatric PAI are not autoimmune. PAI is often the first documented clinical finding in boys with X-linked adrenoleukodystrophy (X-ALD), a rare disorder (prevalence 1 in 15,000) in which deficiency of a peroxisomal membrane protein leads to very long chain fatty acid (VLCFA) accumulation and progressive destruction of the adrenal cortex. A subset of boys with X-ALD develop cerebral ALD (cALD), characterized by progressive central demyelination, neurocognitive decline, and death. 70–80% of boys with X-ALD present with PAI prior to demonstrating neurologic symptoms. Diagnostic workup for X-ALD in pediatric patients presenting with PAI is crucial as timely intervention with hematopoietic stem cell transplant (HSCT) can stop progression of cerebral disease. Clinical Case: An eleven-year-old male was diagnosed with PAI after presenting with poor school performance, growth delay and skin hyperpigmentation. Medical history was significant for well controlled T1DM diagnosed at eight years old. Given his history of T1DM, his PAI was presumed to be autoimmune and further diagnostic testing was not performed. Eleven months later, a brain MRI performed for complaints of visual disturbance and chronic headaches revealed extensive demyelination with gadolinium enhancement consistent with cALD. Elevated VLCFAs and a mutation in the ABCD1 gene confirmed the diagnosis of X-ALD. Unfortunately, the extent of cerebral involvement was so severe that HSCT would not be of significant clinical benefit. In these situations, progressive neurological decline that leads to disability and ultimately death would be expected. Clinical Lessons: This case illustrates that VLCFA testing should be performed in all boys with PAI to rule out X-ALD. In boys, PAI should not be assumed to be autoimmune, even with co-existing autoimmune diseases since APS-2 (Schmidt syndrome) is rare and more likely to occur in adult women. PAI presents early and precedes neurologic symptoms in a majority of boys with cALD. Early identification of X-ALD through VLCFA testing prior to development of severe cALD is critical to allow early intervention with lifesaving HSCT.
Bilateral Adrenal Incidentalomas, Uncommon Presentation and Very Rare Pathology
Authors: Ibraheem Hamad Mohammad Khair Ahmad , Saleh Ahmed Osman , Naem Emad 
Published: May 2021

Abstract
Background: Adrenal incidentaloma is an adrenal mass larger than 1cm accidentally discovered by radiological examination. The incidentalomas should be evaluated for malignancy and functionality. The prevalence of adrenal incidentaloma is 4–10%,1 and around 10–15% of incidentally discovered adrenal masses can be bilateral.2 We present a patient with bilateral adrenal masses due to primary adrenal lymphoma. Clinical Case: 74-year-old gentleman, with past medical history of type-2 Diabetes mellitus, hypertension, presented to our hospital with 2 months history of right-sided flank pain, 20 kg weight loss, loss of appetite and dizziness. Otherwise, no fever, night sweats, bleeding per rectum or urinary symptoms. On physical examination, vital signs were within normal, no remarkable findings other than tenderness over the right flank. Complete blood count and chemistry panel were within normal. Abdominal CT scan was done for evaluation of the abdominal pain which showed two large masses replacing the adrenal glands measure about 10cm in diameter with patchy areas of enhancement. Adrenal insufficiency was suspected based on the symptoms and the CT scan findings. Short syncatin test (high-dose test 250mcg) was done, which showed a cortisol baseline 152nmol/L, 30 minutes 168nmol/L, and 60 minutes 169nmol/L. This was suggestive of adrenal insufficiency, so he was started on hydrocortisone. Screening for pheochromocytoma was done as the patient developed uncontrolled BP readings prior to a scheduled adrenal biopsy. 24-hour urine metanephrines and normetanephrine were negative. CT-guided adrenal mass biopsy showed findings suggestive of large B-cell lymphoma. FDG PET-CT scan showed huge bilateral intense FDG uptake in the adrenal glands with no extra-abdominal manifestations noted. He was started on R-CHOP chemotherapy and after 4cycles, a PET scan showed a significant decrease in the size of previous adrenal masses.
Conclusion: Bilateral adrenal incidentaloma should be evaluated the same as unilateral adrenal mass. Although adrenal involvement is common in non-Hodgkin lymphoma, primary adrenal lymphoma is extremely uncommon.
References
1.Bovio S, Cataldi A, Reimondo G, Sperone P, Novello S, Berruti A, Borasio P, Fava C, Dogliotti L, Scagliotti GV, Angeli A, Terzolo M. Prevalence of adrenal incidentaloma in a contemporary computerized tomography series. J Endocrinol Invest. 2006 Apr;29(4):298–302. doi: 10.1007/BF03344099. PMID: 16699294.
2.Angeli A, Osella G, Alì A, Terzolo M. Adrenal incidentaloma: an overview of clinical and epidemiological data from the National Italian Study Group. Horm Res. 1997;47(4–6):279–83. doi: 10.1159/000185477. PMID: 9167965.
Ectopic ACTH-Producing Pheochromocytoma as a Rare Cause for Rapid Progressing Cushing Syndrome: A Case Report
Authors: Salazar Daniela , Costa Cláudia Fernandes , Oliveira Joana , Violante Liliana , Cunha Ana Luísa , Fernandes Manuel , Santos Ana Paula , Torres Isabel 
Published: May 2021

Abstract
Background: Cushing syndrome due to ectopic CRH or ACTH secretion can be rarely caused by pheochromocytoma, commonly as part of genetic conditions. Case: A 21 year-old male, previously healthy, with no usual medication, went to the physician assistant for hematuria. The kidney US revealed, besides lithiasis, a highly vascularized mass in the right adrenal gland with 10 cm. In his first evaluation the patient had no complaints or pheochromocitoma/hypercortisolism stigmata, other than hand tremor and slight rounding of the face. Blood pressure was 149/88 mmHg, and heart rate 86 bpm. There was no family history of endocrine disease. He rapidly developed increased appetite, insomnia, and severe myalgias, with filling of supraclavicular fossae, facial plethora, and cervical and truncal acne. Laboratory analysis showed abnormal overnight dexamethasone suppression test (57.4 µg/dL, N &lt; 1.8), elevated ACTH 378 pg/mL (N 9.0–52.0), 24h-urinary free cortisol (UFC) (5334.0 µg/24h, N 4.3–176.0), and late-night salivar cortisol (1.44 µg/dL, N &lt; 0.32), hypokalemia (2.8 mEq/L, N 3.8–5.0), and leukocytosis (22.4*109/L, N 4.0–11.0); DHEA-S 962 µg/dL (N 80–560), 4-androstenedione 380 ng/dL (N 70–360), 17-OH progesterone 4.5 ng/mL (N 0.59–3.44), cromogranine A 6063 ng/mL (N 0–100), and markedly elevated urinary amines (adrenaline 173 nmol/24h, N 0–109; noradrenaline 5033 nmol/24h, N 89–473; normetanephrine 334605 nmol/24h, N 480–2424; metanephrine 15998 nmol/24h, N 264–1729; dopamine 4808 nmol/24h, N 424–2612). Hypercalcemia with hypophosphatemia and supressed PTH level was also detected. 68Ga-DOTANOC PET revealed a mass of the right adrenal gland with overexpression of somatostatin receptors (likely pheochromocytoma), without evidence of other tumor lesions of neuroendocrine origin. Pituitary MRI showed normal pituitary gland. Potassium supplementation, alpha-blockade with phenoxybenzamine, and metyrapone were initiated. Due to severe back pain, a CT scan of the spine was performed detecting compressive osteoporotic fractures in the mid dorsal and low dorsal segments. The patient was submitted to right adrenalectomy. Histology revealed pheochromocytoma with 11.2*9mm, with capsular and vascular invasion, extra-adrenal extension, necrosis, and atypical mitosis, with Ki67 of 9.5% and PASS score of 16. Postoperative analysis showed ACTH 45.6 pg/mL (N 7.2-63,3), late-night salivar cortisol &lt; 0,0544 µg/dL (N &lt; 0,32) and free urinary cortisol 41.4 µg/24h (N 4.3–176.0). Discussion: Ectopic cushing syndrome caused by pheochromocytoma is a rarely described entity. In this young patient, it caused rapid clinical progression of hypercortisolism with important hydroelectrolytic disturbances and compressive vertebral fractures, requiring prompt surgical intervention for clinical remission and improvement.
Exogenous Cushing Syndrome Associated With Homeopathic Cream (Boswellia Serrata)
Authors: Mejía Maria Gimena , Jimenez-Canizales Carlos Eduardo , Trespalacios Ruben Fuentes , Niebles Oscar 
Published: May 2021

Abstract
Background: Cushing syndrome (CS) includes the signs and symptoms associated with prolonged exposure to abnormally elevated plasma levels of glucocorticoids, which can be either exogenous or endogenous (cortisol). Exogenous CS has been associated with homeopathic and allopathic products with anti-inflammatory properties, has been demonstrated in many of them, that there are steroid contributions in these drugs which are not reported in their inserts and in prolonged exposure generate BMS. Clinical Case: We present the case of a 23-year-old female with a history of polycystic ovarian syndrome in management with ciproterone acetate and metformin 500 mg dia, who has gained 12 kilos of weight in two months, Progressive appearance of violaceous stretch marks on the thighs, arms and abdomen, associated with diaphoresis, hyporexia, acneiform, rash and hirsutism. The symptoms were related to the use of natural anti-inflammatory cream, for joint pains in knee and shoulders based on natural extracts of Boswellia Serratia during the last three months. It presents paraclinics with post-dexamethasone serum cortisol levels in 1. 25, ACTH 1. 5, Urinary cortisol 20. 24 ug/24h, urinary volume 0. 88 L/24H, DHA -S 27. 1Ug/dl, Free testosterone &lt;0.24 pg/ml, TSH 2. 59 ng/dl, Free-T4: 1. 16 ng/dl, Prolactin: 31 Ng/ml (0–23), Somatomedin C: 109 Ng/ml, (92.9–342.0), HBAC1: 5. 37%, preprandial and postprandial glycemia: 90–133 mg/dl, Am Cortisol:1.11 mcg/dl (6–18 Mcg/dl), Basal Insulin: 74 uUI/ml., Postprandial Insulin: 57 uUI/ml. Clinical findings and dynamic biochemical studies of the adrenal axis, with a positive dexamethasone suppression test and no findings suggesting ectopic production; it was confirmed that the diagnosis of exogenous CS is associated with the use of topical anti-inflammatory. With the of the drug’s suspension, clinical findings have improved, and cortisol levels have decreased. Conclusion: Exogenous hypercortisolism associated with the use of topical anti-inflammatory drugs is not frequent. The first case reported an association with the use of a topical drug based on Boswellia Serrata. In conclusion, with the presence of signs and symptoms of CS the recent use of herbal products by any route of administration and by excluding other causes of endogenous hypercortisolism (central or ectopic) and exogenous, the use of homeopathic products should be suspected as an etiology. Nowadays, there are no reports of exogenous Cushing by BS. The first case is described, without omitting the possibility of unknown compounds in the topical preparation.
Large Bilateral Adrenal Myelolipomas in the Setting of Congenital Adrenal Hyperplasia
Authors: Anderson Karolina E , Solorzano Carmen , Bao Shichun 
Published: May 2021

Abstract
Adrenal myelolipomas (AMLs) are rare benign adrenal tumors containing adipose and hematopoietic tissue, with a reported incidence of 0.08 to 0.4% on autopsy. AMLs are the second most common primary adrenal incidentaloma. Congenital adrenal hyperplasia (CAH) is associated with 10% of analyzed AML cases, half of which are bilateral in CAH patients.
This is a 40-year old male with CAH diagnosed shortly after birth, due to 21-hydroxylase deficiency. He was doing well on a maintenance dose of hydrocortisone 20mg PO qAM and 10mg PO qPM and fludrocortisone 0.2mg PO daily until two years ago when he was incidentally found to have large bilateral AMLs while undergoing abdominal MRI and CT scans. These measured 6.6x3.6x7.7cm on the right (R) and 12.3x8.4x6.8cm on the left (L) at the time. He was asymptomatic, denying flank and abdominal pain. Follow up adrenal CT a year later revealed his AMLs increased in size to 8.7x4.2x6.6cm (R) and 13.9x6x8cm (L). Repeat CT another year later showed further rapid enlargement of his AMLs, measuring 11.1x6.1x7.9cm (R) and 17.1x7.8x10.8cm (L). He also exhibited a rising 17-hydroxyprogesterone level of 11,547ng/dL, despite an increased hydrocortisone dose (20mg BID). Although he remained asymptomatic, due to the precipitous growth of the masses and his increasing steroid requirement, a surgical approach was recommended. Open bilateral adrenalectomy was performed by an experienced endocrine surgeon and patient was discharged from the hospital with maintenance hydrocortisone and fludrocortisone therapy as well as strict sick day instructions.
AMLs were first described in 1905 by Gierke. In the past, they were often discovered on autopsies, but more recently, due to the increase in imaging, have been incidentally diagnosed on more patients. Mostly, they occur unilaterally and are small (&lt;4 cm) in size. Individuals with hormonal dysfunction such as those with Cushing’s Syndrome, Conn’s syndrome and CAH, particularly with difficult-to-control corticotropin levels, may be at a greater risk of developing AMLs concurrently, however this phenomenon is still not well understood. Small asymptomatic AMLs can be monitored with serial imaging over time. Spontaneous rupture of AMLs was found in 4.5% of cases, mostly occurring in tumors &gt; 10cm, some resulting in retroperitoneal hemorrhage or even hemorrhagic shock. Although there is no clear consensus on surgery, development of symptoms or significant growth (to &gt;10cm), as in our case, is a reason to pursue surgical evaluation especially in a young, otherwise relatively healthy adult.
Primary Hyperaldosteronism From Adrenocortical Adenoma Presenting as Seizures and Stroke
Authors: Parihar Aisha 
Published: May 2021

Abstract
Background: Primary hyperaldosteronism, which is unregulated secretion of aldosterone from the adrenal gland, is a common cause of resistant hypertension. Hyperaldosteronism can lead to life threatening cardiovascular and neurological complications emphasizing the crucial need for timely identification and management. We present a case of a young patient who suffered complications as a result of primary hyperaldosteronism.
Clinical Case: A 35 year old female with a past medical history of resistant hypertension on four anti-hypertensive medications, primary hyperaldosteronism with known adenoma, CKD stage III, and hyperlipidemia presented to the hospital due to multiple seizures. She was found to be encephalopathic and required intubation for respiratory failure. Her systolic blood pressure was elevated to 250 mmhg. CT scan of the head showed a small left temporal hemorrhage and an MRI brain was revealing of bilateral thalamic infarcts. No neurosurgical intervention, antiplatelet or anticoagulation was recommended. She was admitted to the ICU and started on nitroprusside infusion. CT scan of the abdomen showed a 17 mm right adrenal nodule unchanged from prior imaging. Due to concern for pheochromocytoma, she was started on alpha blockade and subsequently beta blockade therapy. After stabilization of patient’s blood pressure, extubation, and improvement in mental status, she was discharged on new anti-hypertensive medications including spironolactone given her hypokalemia. Further endocrine evaluation was pursued. Work up included urine and plasma catecholamines which were not indicative of pheochromocytoma. Morning cortisol level was within normal limits. Plasma aldosterone level was 30, plasma renin was 0.90 with an aldosterone/renin ratio of 33 suggestive of primary hyperaldosteronism. Though the patient had known primary hyperaldosteronism with an adenoma, she had poor follow up and did not comply with initial recommendation of surgical removal of adenoma prior to her stroke. After medical stabilization following her stroke, a laparoscopic right adrenalectomy was performed. Pathology showed an adrenal cortical adenoma with no evidence of pheochromocytoma. Post-surgical systolic blood pressures were less than 120 mmhg. She was able to come off of spironolactone with plans to gradually discontinue other antihypertensive medications.
Conclusion: This case emphasizes the importance of testing for primary hyperaldosteronism particularly in young patients with resistant hypertension. Furthermore, primary hyperaldosteronism should be considered as an underlying etiology for young patients who suffer from strokes particularly in the setting of hypertension. Given the reversibility of primary aldosteronism from an adrenocortical adenoma with surgery, life threatening complications such as cerebrovascular accidents can be prevented.
Spontaneous Bilateral Adrenal Hemorrhage in Pregnancy
Authors: Haeri Nami Safai , Ullal Jagdeesh , Mahmud Hussain 
Published: May 2021

Abstract
Introduction: Spontaneous Adrenal Hemorrhage (SAH) in pregnancy is a rare occurrence with estimated prevalence of 0.03% to 1.8%. SAH usually involves the right gland and can be easily mistaken with other conditions due to its nonspecific symptoms. We hereby report 2 cases of spontaneous bilateral SAH that occurred during the 3rd trimester of pregnancy.
Case 1: 28-year-old female with history of IBS presented during 35th week of her first pregnancy with right-sided abdominal pain. Abdominal MRI revealed a 4.7 x 2.8 cm right adrenal hemorrhage. Due to stability of her vitals, steroids were not initiated and she was discharged. She returned 4 days later with similar pain but this time on the left side. MRI did not reveal adrenal bleeding. Due to Blood Pressure (BP) of 90/70 mmHg, hydrocortisone IV 50mg every 8 hours was started. 36 hour later she became tachycardic and tachypneic. CT angiogram (CTa) ruled out Pulmonary Emboli (PE), but was remarkable for interval development of a 5.3 x 3 cm left adrenal hemorrhage. There were no findings indicative of Primary Adrenal Insufficiency (PAI). Patient was discharged home on physiologic dose of hydrocortisone and delivered a healthy baby 2 weeks later at term.
Case 2: 30-year-old female with history of hypertension and polycystic kidney disease presented at 31st week of her 2nd pregnancy with left-sided abdominal pain. Abdominal CT scan showed a 2.3 x 3.1 cm left adrenal hemorrhage. Due to BP of 85/50 mmHg at presentation, she was started on hydrocortisone IV 50 mg one dose followed by 25 mg every 8 hours, which improved her BP. 3 days later she developed new right flank pain. MRI was remarkable for features indicative of adrenal hyperplasia but did not confirm presence of hemorrhage. 1 day later she developed hypoxia and underwent CTa to rule out PE, which was remarkable for a new right adrenal hemorrhage. She did not have findings indicative of PAI and was discharged home on physiologic dose of hydrocortisone. Unfortunately, the pregnancy resulted in intrauterine fetal death at 36 weeks.
Discussion: Adrenal cortex hyperplasia secondary to physiological elevation of ACTH plus adrenal venous constriction due to increased catecholamine release, have been suggested as possible mechanisms for increased risk of SAH in pregnancy. Common manifestations of SAH include abdominal pain, fever, fatigue, dizziness, anemia and hypotension. Features of PAI such as hyponatremia and hyperkalemia should be expected in cases of over 90% damage of adrenal cortices. Management in pregnancy involves fluid resuscitation, close monitoring for findings suggestive of adrenal crisis, fetal monitoring and glucocorticoid +/- mineralocorticoid replacement if indicated. Possibility for development of bilateral SAH should always be considered in patients who develop unilateral SAH. If left unrecognized, SAH is associated with poor outcomes and high fatality rate for both mother and fetus.
Thymic Hyperplasia Developing After Treatment of Cushing’s Syndrome, Management and Literature Review
Authors: Riaz Aiman , Wagner Lauren , Malhotra Neha 
Published: May 2021

Abstract
Thymic Hyperplasia Developing After Treatment of Cushing’s Syndrome, Management and Literature Review Introduction/ Background: Rebound thymic hyperplasia (RTH) has been described after the resolution of hypercortisolism from multiple conditions. It can potentially lead to a variety of diagnostic dilemmas. We describe a case where thymic enlargement was seen after unilateral adrenalectomy for adrenal Cushing’s syndrome. Thymic hyperplasia developing after treatment of adrenal Cushing’s syndrome has been very rarely reported. Clinical Case: 43 year old female with type 2 diabetes, hypertension, morbid obesity, depression underwent left adrenalectomy for management of Cushing’s syndrome. Two years after adenoma resection, the patient underwent a CT angiogram of the chest as part of a work up for chest pain which revealed a new anterior mediastinal soft tissue attenuation mass (30–40 Hounsfield units) measuring 6.5cm x2.5cm x 3.7cm. It was found to be abutting the inferior margin of the left brachiocephalic vein and anterior margin of the aortic arch. MRI chest demonstarated mild homogeneous postcontrast enhancement and loss of signal on the opposed phase T1 sequence indicating microscopic fat, deemed to be consistent with thymic hyperplasia. Patient had a detailed discussion of risks versus benefits of biopsy/surgery/conservative management with thoracic surgeon and opted to be managed conservatively. MRI Chest done at 3 month follow up showed a decrease in the size of the mass to 5.8 x 2.4 x 5.cm. She has been on chronic hydrocortisone therapy since adrenalectomy and multiple attempts to wean her off of steroids have been unsuccessful. She continues to be followed closely in the outpatient setting for presumed RTH. Clinical Lesson/ Conclusion: This case highlights the importance of recognizing RTH in patients treated for Cushing’s syndrome. Rapid enlargement of the thymus post adrenalectomy can often lead to unnecessary biopsies and surgeries. The underlying mechanism though unclear has been attributed to depletion of thymic lymphocytes caused by high cortisol concentrations of the plasma leading to RTH when the cortisol level declines. Keywords: Thymic Hypertrophy, Cushing’s syndrome, Thymic hyperplasia