Patient Demographics > Ethnicity > Asian - Chinese
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Search for other papers by Aishah Alhajeri in
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Search for other papers by Sulaiman Hajji in
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Search for other papers by Khalid Aljenaee in
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Summary
Menstrual cycle abnormalities are common in premenopausal females with Cushing’s syndrome, although the underlying mechanism is poorly understood. Signs and symptoms found in Cushing’s syndrome overlap with polycystic ovarian syndrome (PCOS). The patient is a 33-year-old female previously diagnosed by a gynecologist with PCOS and treated with oral contraceptive pills (OCPs) for 2 years. She then discontinued her OCPs without consulting a clinician, resulting in amenorrhea for 6 months, for which she presented. She also had symptoms of depression and anxiety but had no other signs and symptoms of Cushing’s syndrome, except a plethoric face. Initial lab work showed evidence of central hypogonadism (low luteinizing hormone, follicle-stimulating hormone, and estrogen), so a complete anterior pituitary hormone workup was done. Her thyroid-stimulating hormone was also low with a low free T4 level. Prolactin level was normal, but surprisingly, her AM cortisol level was high. The Cushing’s syndrome workup revealed non-suppressed cortisol after a 1 mg dexamethasone suppression test and positive 24-h urine cortisol with suppressed adrenocorticotrophic hormone. A CT scan of her adrenal glands revealed a left adrenal adenoma. She underwent a left adrenalectomy, after which her menstrual cycles became regular again, and pituitary function has recovered.
Learning points
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In Cushing's syndrome, female patients can have menstrual abnormalities due to the high cortisol levels, which can affect gonadotrophin levels.
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We encourage clinicians to include Cushing's syndrome in the differential diagnosis of patients with central hypogonadism.
Search for other papers by Chi-Ta Hsieh in
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Search for other papers by Jui-Ting Yu in
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Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan
Search for other papers by Tang-Yi Tsao in
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Division of Endocrinology and Metabolism, Department of Internal Medicine, Tungs' Taichung MetroHarbor Hospital, Taichung, Taiwan
Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan
Search for other papers by Yao Hsien Tseng in
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Summary
A 69-year-old woman presented with weight loss, fever, dizziness, exertional dyspnea, and drenching night sweats. Imaging showed a thyroid goiter at the left lobe that measured 5.6 × 3.4 × 3.5 cm in size. On computed tomography, she was found to have large adrenal masses. Core needle biopsy of the left thyroid mass revealed the presence of a mucosa-associated lymphoid tissue extranodal marginal zone B cell lymphoma. Non-Hodgkin’s lymphomas (NHL) typically develop in lymph nodes or other lymphatic tissues. There have been cases where the thyroid has been affected, and the secondary involvement of the adrenal gland is common. In reported cases, 7–59% of patients with NHL exhibited symptoms of thyroid dysfunction. Our patient presented no symptoms of thyroid dysfunction or Hashimoto’s thyroiditis. The patient had bilateral adrenal lymphomas that led to adrenal insufficiency. Immunochemotherapy provided a good response in this case, as seen by the rapid improvement in thyroid and adrenal mass on follow-up PET/CT.
Learning points
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Thyroid lymphoma requires a high index of suspicion for diagnosis in patients with a rapidly growing thyroid tumor, even in the absence of chronic inflammatory thyroid disease.
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Depending on the extent of involvement, adrenal lymphoma may rapidly cause adrenal insufficiency.
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In the setting of acute illness, appropriate levels of plasma cortisol are often unclear, necessitating early initiation of glucocorticoid therapy based on clinical suspicion, especially when features like bilateral adrenal masses and elevated ACTH levels are present.
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Treatment modalities include chemotherapy and radiation therapy for localized lesions, together with hormone replacement for organ dysfunction.
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The origin of the tumor influences the clinical outcome of patients with lymphoma simultaneously involving the thyroid and adrenal glands.
Search for other papers by Geoffrey Chek Fei Yu in
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Search for other papers by Ming-kut Tay in
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Search for other papers by Sammy Pak-lam Chen in
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Search for other papers by Mei Tik Stella Leung in
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Search for other papers by Joanna Yuet-ling Tung in
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Summary
17α-hydroxylase deficiency (17α-OHD) is a rare form of congenital adrenal hyperplasia. We report the case of a teenage girl with 17α-OHD who presented with delayed puberty, hypergonadotropic hypogonadism and hypertension. We illustrate the clinical approach in workup, the subsequent management and monitoring of this rare condition.
Learning points
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17α-hydroxylase deficiency (17α-OHD) should be considered as a rare yet important differential diagnosis of girls with delayed puberty and elevated gonadotropins.
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Urine steroid profile, plasma aldosterone and renin levels should be assessed in adolescent girls with hypergonadotropic hypogonadism, after the exclusion of more common conditions, e.g. Turner syndrome.
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Inhibiting deoxycorticosterone (DOC) release by partial glucocorticoid replacement, counteracting DOC’s mineralocorticoid effects by antagonists (such as eplerenone or spironolactone) as well as sex hormone replacements constitute the major backbone in the management of 17α-OHD.
Search for other papers by Wenxin Zhang in
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Search for other papers by Wenqiong Xu in
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Summary
Immune checkpoint inhibitors (ICPis) are novel immunotherapy drugs for a variety of cancers. Toripalimab is one of the ICPis that selectively blocks programmed death 1 (PD-1) and has been used for the treatment of malignant cancers in the hospitals of China. But with the widespread use of ICPis, some of the adverse reactions have gradually appeared. One of the most serious side effects is diabetes mellitus which is a relatively rare immune-related adverse event (irAEs) with life-threatening complications. We report a case of diabetes after the administration of toripalimab for the treatment of melanoma in southern China. To our knowledge, this is a rare case of diabetes occurring during toripalimab therapy, there is only one similar case reported in China so far. As China has a high morbidity of malignant cancer, a significant number of patients could be affected by the adverse reactions of using ICPis. Therefore, when ICPis are administrated, it is very important for clinicians to pay attention to one of the serious side effects – diabetes mellitus. Insulin therapy is often necessary after the diagnosis of ICPis-related diabetes, which has been proved as an effective method to prevent diabetic ketoacidosis (DKA) and other life-threatening complications in these patients.
Learning points
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Toripalimab can cause the diabetes mellitus.
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ICPis-related diabetes is treated primarily with insulin.
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Immune checkpoint inhibitors cause diabetes by primarily destroying islet β cells.
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There is not enough evidence to demonstrate that diabetic autoantibodies are related to diabetes caused by ICPis.
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In addition to focusing on the efficacy of PD-1 inhibitor therapy, it is also necessary to pay attention to its adverse reactions, such as ICPis-related diabetes mellitus.
Search for other papers by Wanling Zeng in
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Search for other papers by Sophie Tan in
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Search for other papers by Thomas Frederick James King in
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Summary
We report a case of subacute thyroiditis in a 40-year-old female who initially presented with painful thyroid nodules without clinical and biochemical evidence of hyperthyroidism. Thyroid ultrasound was done to evaluate the thyroid nodules and fine-needle aspiration (FNA) was performed in view of the suspicious features. As the FNA showed a follicular lesion of undetermined significance or atypia of undetermined significance (FLUS/AUS, Bethesda III), she was advised for surgical excision. She was subsequently diagnosed with subacute thyroiditis based on her clinical symptoms, biochemical evidence of hyperthyroidism, raised erythrocyte sedimentation rate (ESR) as well as low uptake on thyroid scintigraphy. The thyroid lesions disappeared after symptomatic treatment. It is important to recognise that subacute thyroiditis can present with painful thyroid lesions with ultrasound features similar to suspicious thyroid nodules which can resolve with the resolution of the thyroiditis.
Learning points
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Subacute thyroiditis can present with atypical features such as the absence of pain, normal erythrocyte sedimentation rate or absence of hyperthyroidism.
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In subacute thyroiditis, ultrasound findings are commonly described as focal or multifocal lesions with poorly defined and heterogeneous and hypoechoic echogenicity which can be misdiagnosed as malignancy.
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Thyroid lesions can resolve with the resolution of thyroiditis with or without symptomatic treatment.
Search for other papers by Kara Alex-Ann Beliard in
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Search for other papers by Srinidhi Shyamkumar in
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Search for other papers by Preneet Cheema Brar in
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Search for other papers by Robert Rapaport in
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Summary
We describe a case of an infant who presented with clinical features of hyperthyroidism. The child was found to be tachycardic, hypertensive and diaphoretic, she was noted to have poor weight gain and difficulty in sleeping. The child was admitted to the pediatric intensive care unit for care. She was found to have biochemical evidence of hyperthyroidism with positive thyroid stimulating immunoglobulin. She responded well to methimazole and propranolol and had a remarkable recovery. She is the youngest patient to be diagnosed with Graves disease in the English literature, at 12 months of life.
Learning points
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Hyperthyroidism must always be considered even at very young age, for patient presenting with poor weight gain and hyperdynamic state.
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Autoimmune diseases are becoming more common in infancy.
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Craniosynostosis and increased height for age are well-documented consequences of untreated hyperthyroidism in developing children.
Search for other papers by Chi-Hong Ng in
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Search for other papers by Wing-Sun Chow in
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Search for other papers by Karen Siu-Ling Lam in
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Search for other papers by Chi-Ho Lee in
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Summary
Thyroid stimulating hormone (TSH)-secreting pituitary adenoma (TSHoma) is an uncommon cause of thyrotoxicosis, and is even rarer when found during pregnancy. Our patient presented with thyrotoxicosis accompanied by an inappropriately normal TSH level at 10 weeks of gestation during work-up of surgical termination of pregnancy (STOP). Subsequent investigations performed after STOP confirmed the presence of a TSH-secreting pituitary macroadenoma. She was initially treated with anti-thyroid drugs for biochemical control, followed by trans-sphenoidal surgery after STOP had been performed. Her thyroid function completely normalized after the trans-sphenoidal surgery. Our case illustrated the importance of recognizing the syndrome of inappropriate TSH secretion and highlighted several pregnancy-related aspects in the diagnosis and management of TSHoma during pregnancy.
Learning points:
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This case report illustrates the need to raise awareness in recognizing the syndrome of inappropriate TSH secretion.
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Illustrate the different hormone tests available for reaching the diagnosis of TSH-secreting pituitary adenoma.
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Highlight the physiological changes in the thyroid status during pregnancy and the importance of using trimester-specific reference ranges for assessment of thyroid function during pregnancy.
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Describe the challenges in the management of TSH-secreting pituitary adenoma during pregnancy.
Search for other papers by Skand Shekhar in
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Search for other papers by Sriram Gubbi in
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Computational Biomedicine Laboratory (CBML), Institute of Computer Science (ICS), Foundation for Research and Technology Hellas (FORTH), Heraklion, Greece
Search for other papers by Georgios Z Papadakis in
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Search for other papers by Naris Nilubol in
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Search for other papers by Fady Hannah-Shmouni in
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Summary
Adrenococortical carcinoma (ACC) is a rare cancer, occurring at the rate of one case in two million person years. Cushing syndrome or a mixed picture of excess androgen and glucocorticoid production are the most common presentations of ACC. Other uncommon presentations include abdominal pain and adrenal incidentalomas. In the present report, a 71-year-old male presented with abdominal pain and was eventually diagnosed with ACC. He was found to have pulmonary thromboembolism following an investigation for hypoxemia, with the tumor thrombus extending upto the right atrium. This interesting case represents the unique presentation of a rare tumor, which if detected late or left untreated is associated with poor outcomes, highlighting the need for a low index of suspicion for ACC when similar presentations are encountered in clinical practice.
Learning points:
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ACC is a rare but aggressive tumor.
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ACC commonly presents with rapid onset of hypercortisolism, combined hyperandrogenism and hypercortisolism, or uncommonly with compressive symptoms.
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Clinicians should have a low index of suspicion for ACC in patients presenting with rapid onset of symptoms related to hypercortisolism and/or hyperandrogenism.
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Venous thromboembolism and extension of the tumor thrombus to the right side of the heart is a very rare but serious complication of ACC that clinicans should be wary of.
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The increased risk of venous thromboembolism in ACC could be explained by direct tumor invasion, tumor thrombi or hypercoagulability secondary to hypercortisolism.
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Early diagnosis and prompt treatment can improve the long-term survival of patients with ACC.
Search for other papers by Sarah W Y Poon in
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Search for other papers by Karen K Y Leung in
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Search for other papers by Joanna Y L Tung in
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Summary
Severe hypertriglyceridemia is an endocrine emergency and is associated with acute pancreatitis and hyperviscosity syndrome. We describe an infant with lipoprotein lipase deficiency with severe hypertriglyceridemia who presented with acute pancreatitis. She was managed acutely with fasting and intravenous insulin infusion, followed by low-fat diet with no pharmacological agent. Subsequent follow-up until the age of 5 years showed satisfactory lipid profile and she has normal growth and development.
Learning points:
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Hypertriglyceridemia-induced acute pancreatitis has significant morbidity and mortality, and prompt treatment is imperative.
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When no secondary causes are readily identified, genetic evaluation should be pursued in hypertriglyceridemia in children.
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Intravenous insulin is a safe and effective acute treatment for hypertriglyceridemia in children, even in infants.
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Long-term management with dietary modifications alone could be effective for primary hypertriglyceridemia due to lipoprotein lipase deficiency, at least in early childhood phase.
Search for other papers by Huilin Koh in
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Search for other papers by Manish Kaushik in
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Search for other papers by Chiaw Ling Chng in
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Summary
Thyroid storm with multi-organ failure limits the use of conventional treatment. A 44-year-old male presented with thyroid storm and experienced cardiovascular collapse after beta-blocker administration, with resultant fulminant multi-organ failure requiring inotropic support, mechanical ventilation, extracorporeal membrane oxygenation (ECMO) and continuous renal replacement therapy. Hepatic and renal failure precluded the use of conventional thyroid storm treatment and early plasma exchange was instituted. The patient underwent emergency thyroidectomy after four effective exchanges, with subsequent rapid reversal of multi-organ failure. The challenges of institution of plasma exchanges with ongoing ECMO support, dialysis and timing of thyroidectomy are discussed. This case highlights the important role of early therapeutic plasma exchange (TPE) as an effective salvage therapy for lowering circulating hormones and stabilization of patients in preparation for emergency thyroidectomy in patients with thyroid storm and fulminant multi-organ failure.
Learning points:
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Administration of beta-blockers in thyroid storm presenting with congestive cardiac failure may precipitate cardiovascular collapse due to inhibition of thyroid-induced hyperadrenergic compensation which maintains cardiac output.
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TPE can be an effective bridging therapy to emergency total thyroidectomy when conventional thyroid storm treatment is contraindicated.
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End-organ support using ECMO and CRRT can be combined with TPE effectively in the management of critically ill cases of thyroid storm.
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The effectiveness of plasma exchange in lowering thyroid hormones appears to wane after 44–48 h of therapy in this case, highlighting the importance early thyroidectomy.
