Case Reports in Endocrinology最新文献

{"title":"Challenging Case of Ectopic ACTH Secretion from Prostate Adenocarcinoma","authors":"W. Zeng, J. Khoo","doi":"10.1155/2022/3739957","DOIUrl":"https://doi.org/10.1155/2022/3739957","url":null,"abstract":"Cushing's syndrome (CS) secondary to ectopic adrenocorticotrophic hormone (ACTH)-producing prostate cancer is rare with less than 50 cases reported. The diagnosis can be challenging due to atypical and variable clinical presentations of this uncommon source of ectopic ACTH secretion. We report a case of Cushing's syndrome secondary to prostate adenocarcinoma who presented with symptoms of severe hypercortisolism with recurrent hypokalaemia, limb oedema, limb weakness, and sepsis. He presented with severe hypokalaemia and metabolic alkalosis (potassium 2.5 mmol/L and bicarbonate 36 mmol/L), with elevated 8 am cortisol 1229 nmol/L. ACTH-dependent Cushing's syndrome was diagnosed with inappropriately normal ACTH 57.4 ng/L, significantly elevated 24-hour urine free cortisol and unsuppressed cortisol after 1 mg low-dose, 2-day low-dose, and 8 mg high-dose dexamethasone suppression tests. 68Ga-DOTANOC PET/CT showed an increase in DOTANOC avidity in the prostate gland, and his prostate biopsy specimen was stained positive for ACTH and markers for neuroendocrine differentiation. He was started on ketoconazole, which was switched to IV octreotide in view of liver dysfunction from hepatic metastases. He eventually succumbed to the disease after 3 months of his diagnosis. It is imperative to recognize prostate carcinoma as a source of ectopic ACTH secretion as it is associated with poor clinical outcomes, and the diagnosis can be missed due to atypical clinical presentations.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"37 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87849215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam","authors":"Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, M. T. Nguyen, T. Ha","doi":"10.1155/2022/6025916","DOIUrl":"https://doi.org/10.1155/2022/6025916","url":null,"abstract":"SRD5A2 (steroid 5-alpha-reductase 2) mutation, which impairs 5α-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of SRD5A2 gene in a compound heterozygous state first identified in a Vietnamese newborn with 5α-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-ending vagina. The other mutation NM_000348.4:c.680G>A (NP_000339.2:p.Arg227Gln) was reported previously. This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. Up to date, this is the first report of this rare compound heterozygous state of SRD5A2 c.485A>C and c.680G>A mutations in patients with 46,XY DSD generally as well as in Vietnamese population particularly and is also the second report in the world carrying the pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro). Our finding has enriched the understanding of the spectrum of SRD5A2 variants and phenotypic correlation in Asian patients with 46,XY DSD.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"66 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80131661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type 1 Diabetes (T1D) and Latent Autoimmune Diabetes in Adults (LADA): The Difference Between a Honeymoon and a Holiday","authors":"L. Marcon, C. Fanelli, R. Calafiore","doi":"10.1155/2022/9363543","DOIUrl":"https://doi.org/10.1155/2022/9363543","url":null,"abstract":"Type 1 diabetes mellitus (T1D) is a chronic autoimmune disease in which destruction of the insulin-producing β-cells in the pancreatic islets requires regular lifelong insulin replacement therapy, the only lifesaving treatment available at this time. In young persons with a genetic predisposition, it usually manifests after being exposed to environmental triggers. A subtype of autoimmune diabetes mellitus (ADM) that typically occurs in adulthood is often referred to as latent autoimmune diabetes of adults (LADA). LADA is characterized by a milder process of β-cells destruction and less intensive insulin treatment, which may become necessary even many years after diagnosis. Genetic predisposition of T1D carries an increased risk for other autoimmune diseases, such as autoimmune thyroiditis, the most frequently associated condition, and pernicious anaemia (PA), present in approximately 4% of all individuals with T1D. Here, we describe the case of a 90-year-old woman with vitiligo and a mute medical history who was admitted to our University Hospital in Perugia with hyperglycaemia and severe anaemia due to vitamin B12 (VB12) depletion. A short time after setting the beginning treatment with a basal-bolus insulin regimen, her insulin requirement rapidly declined and treatment with sitagliptin, a dipeptidyl peptidase-4 inhibitor (DPP4), was started. A complete autoimmunity screening panel showed that GAD65 and intrinsic factor autoantibodies were positive.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"6 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79792642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome","authors":"Ravi Upadhyay, Claire Ruane, Rachel Umans, B. Pletcher, Aditi Khokhar, Kristin G Wong","doi":"10.1155/2022/8542281","DOIUrl":"https://doi.org/10.1155/2022/8542281","url":null,"abstract":"Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve–Melchior–Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient's rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"51 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80827837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Euglycemic Diabetic Ketoacidosis after Discontinuing SGLT2 Inhibitor","authors":"Mohamed Alhemeiri, Eiman Alseddeeqi","doi":"10.1155/2022/4101975","DOIUrl":"https://doi.org/10.1155/2022/4101975","url":null,"abstract":"Background Sodium glucose cotransporter-2 (SGLT2) inhibitors have been proven to be very effective in the management of type II diabetes. These medications can cause adverse drug reactions such as genital mycotic infections. Another critical adverse drug reaction is euglycemic diabetic ketoacidosis (EDKA) under the setting of other contributing risk factors for developing diabetic ketoacidosis. Case Presentation. We report a case of a 45-year-old gentleman with type 2 diabetes mellitus on empagliflozin, metformin, and glimepiride who presented with abdominal pain, fatigue, and vomiting. Of note, he started a ketogenic diet three days before his presentation and self-stopped his antidiabetic medications two days before his presentation. The patient was found to have euglycemic diabetic ketoacidosis and was treated as per the protocol. He was discharged on metformin and pioglitazone. Two weeks following discharge, canagliflozin was added. Conclusion Euglycemic diabetic ketoacidosis could still be precipitated despite discontinuation of SGLT2I under a ketogenic diet. Discussion related to the initiation of a ketogenic diet should occur between the care provider and the patient.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"21 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89581811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overcoming Barriers to Diabetes Technology in Youth with Type 1 Diabetes and Public Insurance: Cases and Call to Action","authors":"Ming Yeh Lee, M. Tanenbaum, D. Maahs, P. Prahalad","doi":"10.1155/2022/9911736","DOIUrl":"https://doi.org/10.1155/2022/9911736","url":null,"abstract":"Advancements in diabetes technology such as continuous glucose monitoring (CGM), insulin pumps, and automated insulin delivery provide opportunities to improve glycemic control for youth with type 1 diabetes (T1D). However, diabetes technology use is lower in youth on public insurance, and this technology use gap is widening in the US. There is a significant need to develop effective interventions and policies to promote equitable care. The dual purpose of this case series is as follows: (1) describe success stories of the CGM Time in Range Program (CGM TIPs), which removed barriers for initiating CGM and provided asynchronous remote glucose monitoring for youth on public insurance, and (2) advocate for improving CGM coverage by public insurance. We describe a series of six youths with T1D and public insurance who obtained and sustained use of CGM with assistance from the program. Three youths had improved engagement with the care team while on CGM and the remote monitoring protocol, and three youths were able to leverage sustained CGM wear to obtain insurance coverage for automated insulin delivery systems. CGM TIPs helped these youths achieve lower hemoglobin A1c and improved time in range (TIR). Despite the successes, expansion of CGM TIPs is limited by stringent barriers for CGM approval and difficult postapproval patient workflows to receive shipments. These cases highlight the potential for combining diabetes technology and asynchronous remote monitoring to support continued use and provide education to improve glycemic control for youth with T1D on public insurance and the need to reduce barriers for obtaining CGM coverage by public insurance.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"38 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89115132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Infant with Asymptomatic Vitamin D Intoxication: A Prolonged and Sustainable Recovery","authors":"I. Al Alwan, Nouf Al Issa, Yousef Al Anazi, Khalid Al Noaim, M. Z. Mughal, A. Babiker","doi":"10.1155/2022/7072815","DOIUrl":"https://doi.org/10.1155/2022/7072815","url":null,"abstract":"Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an experience of treating an infant with asymptomatic VDI that had a prolonged course of recovery and a sustainable level of vitamin D over a follow-up period of 2.5 years. In our patient, vitamin D started to drop steadily after a month of stopping vitamin D supplements but not to a normal level. It reached an acceptable level only after six months. This case emphasizes the importance of educating parents about the empirical use of vitamin D over the counter, assessing the baseline level of serum vitamin D level prior to initiation of treatment and highlights the value of verifying additional dietary sources of vitamin D or oral supplements in patient's history.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"24 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77357083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retracted: A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia","authors":"Case Reports in Endocrinology","doi":"10.1155/2022/9808430","DOIUrl":"https://doi.org/10.1155/2022/9808430","url":null,"abstract":"[This retracts the article DOI: 10.1155/2013/747898.].","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"25 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81501999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Tale of Two Hypersecreting Adrenal Neoplasms in the Heartland of COVID-19 Pandemic, Lombardy, Italy","authors":"B. Zampetti, R. Attanasio, E. Carioni, D. Dallabonzana, I. Pauna, M. Boniardi, R. Cozzi","doi":"10.1155/2022/1539203","DOIUrl":"https://doi.org/10.1155/2022/1539203","url":null,"abstract":"In this study, we report the management, in Lombardy, Italy, of one patient with Cushing's syndrome due to adrenal adenoma and another one with pheochromocytoma, whose surgeries were deferred owing to the COVID-19 pandemic.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"37 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90502196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral Leydig Cell Hyperplasia: A Rare Cause of Postmenopausal Hirsutism.","authors":"S Pathmanathan,&nbsp;S D N De Silva,&nbsp;M Sumanatilleke,&nbsp;D Lokuhetty,&nbsp;U V V Ranathunga","doi":"10.1155/2022/8804856","DOIUrl":"https://doi.org/10.1155/2022/8804856","url":null,"abstract":"<p><strong>Background: </strong>Postmenopausal hirsutism could be due to a myriad of causes, including ovarian and adrenal tumours, ovarian hyperthecosis, exogenous androgens, and Cushing's syndrome. We report a patient who was found to have a rare cause of postmenopausal hirsutism. <i>Case Presentation</i>. A 64-year-old postmenopausal woman with a history of hypertension, thyrotoxicosis, and poorly controlled diabetes on multiple oral hypoglycaemic agents presented with gradual onset progressive excessive hair growth without any virilizing features. On examination, she did not have Cushingnoid features or clitoromegaly. Her hirsutism was quantified with Ferriman-Gallwey score which was 9. Her biochemical evaluation showed elevated testosterone levels with normal DHEAS, ODST, 17-OHP, and prolactin. Low-dose dexamethasone suppression test did not suppress testosterone more than 40%. Contrast-enhanced CT of the adrenal and pelvis did not show any adrenal or ovarian mass lesions. Transvaginal ultrasound scan showed bilateral prominent ovaries only. Combined adrenal and ovarian venous sampling was carried out to localize the source of excess androgen, but only the left adrenal vein was successfully cannulated which showed suppressed testosterone level compared to periphery. The patient underwent total abdominal hysterectomy and bilateral salphingo oophorectomy, and her testosterone level normalized postoperatively. Her glycaemic control improved. Histology showed evidence of bilateral diffuse ovarian Leydig cell hyperplasia.</p><p><strong>Conclusion: </strong>Evaluation of postmenopausal hirsutism needs careful history and examination followed by biochemical evaluation and imaging. While adrenal and ovarian venous sampling can help to arrive at a diagnosis, it is a technically demanding procedure with low success rates even at centers of excellence. Therefore, in such situations, bilateral oophorectomy may be the best course of action which will give the histological confirmation of the diagnosis. Successful treatment of hyperandrogenism can result in improvement of glycaemic control. Bilateral diffuse Leydig cell hyperplasia is a rare but important cause of postmenopausal hirsutism.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":" ","pages":"8804856"},"PeriodicalIF":1.1,"publicationDate":"2022-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8858062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39804544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}