Patient Demographics > Country of Treatment > China

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Aishah Alhajeri Aishah Alhajeri, Internal Medicine Resident, Ministry of Health, Kuwait

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Sulaiman Hajji Sulaiman Hajji, Endocrinologist, Adan Hospital, Ministry of Health, Kuwait

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Khalid Aljenaee Khalid Aljenaee, Endocrinologist, Adan Hospital, Ministry of Health, Kuwait

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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

  • In Cushing's syndrome, female patients can have menstrual abnormalities due to the high cortisol levels, which can affect gonadotrophin levels.

  • We encourage clinicians to include Cushing's syndrome in the differential diagnosis of patients with central hypogonadism.

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Geoffrey Chek Fei Yu Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong

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Ming-kut Tay Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong

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Sammy Pak-lam Chen Division of Chemical Pathology, Department of Pathology, Queen Elizabeth Hospital, Hong Kong

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Mei Tik Stella Leung Division of Chemical Pathology, Department of Pathology, Queen Elizabeth Hospital, Hong Kong

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Joanna Yuet-ling Tung Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital, Hong Kong

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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

  • 17α-hydroxylase deficiency (17α-OHD) should be considered as a rare yet important differential diagnosis of girls with delayed puberty and elevated gonadotropins.

  • 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.

  • 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.

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Wenxin Zhang Department of Endocrinology and Metabolism, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China

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Wenqiong Xu Department of Endocrinology and Metabolism, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China

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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

  • Toripalimab can cause the diabetes mellitus.

  • ICPis-related diabetes is treated primarily with insulin.

  • Immune checkpoint inhibitors cause diabetes by primarily destroying islet β cells.

  • There is not enough evidence to demonstrate that diabetic autoantibodies are related to diabetes caused by ICPis.

  • 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.

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Huanyu Ding Department of Endocrinology and Metabolism, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, People's Republic of China

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Yang Li Department of Pathology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, People's Republic of China

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Caishun Ruan Department of Endocrinology and Metabolism, Longyan People Hospital, Longyan, 364000, People's Republic of China

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Yuan Gao Department of General Practice, Community Health Center of Qianjin Street, Tianhe District, Guangzhou, 510660, People's Republic of China

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Hehua Wang Department of Hematology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, People's Republic of China

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Xiangsong Zhang Department Nuclear Medicine, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, People's Republic of China

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Zhihong Liao Department of Endocrinology and Metabolism, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, People's Republic of China

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Summary

Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, has been rarely seen and is characterized by the accumulation of foamy CD68+CD1a- histiocytes. We reported a case of ECD and reviewed the clinical features of 13 cases of ECD reported so far in China. A 53-year-old male was diagnosed with central diabetes insipidus in March 2014, followed by fever, splenomegaly and anemia in July 2014. His initial pituitary magnetic resonance imaging (MRI) revealed the absence of high signal at T1-weighted image in posterior pituitary without any lesion. A further positron emission tomography/computer tomography (PET/CT) images showed elevated metabolic activity of 18F-2-fluro-D-deoxy-glucose (FDG) and low 13N-NH3 uptake in the posterior pituitary, and multi-organ involvement. Biopsy at right femur lesion revealed that granulomatous infiltration of foamy histiocytes and Touton giant cells surrounded by fibrosis tissues. Immunohistochemistry stain was positive for CD68, negative for CD207/Langerin and S-100. The diagnosis of ECD was confirmed and the treatment with pegylated interferon was effective. ECD was a possible immune-related disorder concluding from the IgG4 immunohistochemistry results. We summarized the pathological manifestations for ECD and its differential diagnosis from Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD). ECD should be considered by both pathologists and clinicians in the differential diagnosis when central diabetes insipidus is accompanied with multi-organ involvement, especially skeletal system involvement, or recurrent fever.

Learning points

  • ECD should be considered when central diabetes insipidus is accompanied with multisystem involvement, especially symmetric/asymmetric bone lesions, or recurrent fever.

  • PET/CT scanning was helpful for locating pituitary lesion, discovering multiple system involvement and indicating the biopsy sites.

  • Conducting proper immunohistochemistry stains was important for diagnosing ECD. ECD might be correlated with immune disorder.

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Jingjing Jiang Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, 200032, People's Republic of China

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Mei Zhang Department of Endocrinology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China

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Ronghua He Department of Endocrinology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China

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Meiping Shen Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, People's Republic of China

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Wei Liu Department of Nuclear Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, People's Republic of China

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Summary

Functional parathyroid cysts are a rare cause of primary hyperparathyroidism and are often mistaken for thyroid cysts. Systemic lupus erythematosus (SLE) is also a very rare cause of hypercalcemia. We report the case of a 62-year-old woman, who was diagnosed with SLE 30 years ago, presenting with clinical and biochemical features of primary hyperparathyroidism. Laboratory investigation revealed increased serum calcium and parathyroid hormone (PTH) levels; neck ultrasonography (USG) revealed 40×34×26 mm cystic mass in the left lobe of thyroid gland. PTH level in the cysts was >2500 pg/ml, determined by USG-guided fine-needle aspiration (FNA). In this case, no evidence for potential pathogenic association between parathyroid cyst and SLE was uncovered. However, the recognition of this association is very important because the therapeutical strategy is completely different. Operative management is usually straightforward and alleviates symptoms and any biochemical abnormalities caused by the cyst.

Learning points

  • Functional parathyroid cysts are the rare cause of primary hyperparathyroidism and are often mistaken for thyroid cysts.

  • SLE is also a very rare cause of hypercalcemia.

  • Ultrasound-guided FNA of cystic fluid with assay for PTH level is an accurate method of differentiating parathyroid cyst from thyroid cyst.

  • Appropriate management of functional parathyroid cysts is surgical excision.

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