JCEM case reports最新文献_第10页

DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis. 迪乔治综合征在 38 岁时被确诊：低资源环境下的挑战与漏诊的影响》。

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae136

William Kuenstner, Suthee Rapisuwon, Leila Shobab

{"title":"DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.","authors":"William Kuenstner, Suthee Rapisuwon, Leila Shobab","doi":"10.1210/jcemcr/luae136","DOIUrl":"https://doi.org/10.1210/jcemcr/luae136","url":null,"abstract":"22q11.2 deletion syndrome (22.q11.2 DS) is a genetic syndrome resulting from a microdeletion on chromosome 22. It has a diverse array of manifestations, and most cases are diagnosed early in childhood. We present the case of a 38-year-old female born in a developing country who presented to our clinic to establish care for a history of primary hypothyroidism. She was clinically and biochemically euthyroid on thyroid supplementation. She was also noted to have hypocalcemia in the setting of low PTH, for which the patient was previously prescribed calcitriol. Given a history of cleft palate, abnormal facial features, mild recurrent sinopulmonary infections, and her endocrine history (including short stature with height in the 6th percentile), genetic testing was obtained. She was diagnosed with a heterozygous whole gene deletion of the TBX1 gene. Additional genetic evaluation demonstrated a 2.6-Mb microdeleted segment of the 22a11.2 region encompassing 62 genes. The patient was referred to cardiology for evaluation of cardiac involvement given a history of tachyarrhythmia. This case highlights challenges in diagnosis and the implications of a delayed diagnosis of 22.q11.2 DS.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae136"},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763040","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}

引用次数: 0

Long-term Evolution of Hypophosphatemia and Osteomalacia in a Patient With Multiple Myeloma. 一名多发性骨髓瘤患者低磷血症和骨软化症的长期发展过程

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae137

Alireza Zomorodian, Naim M Maalouf

{"title":"Long-term Evolution of Hypophosphatemia and Osteomalacia in a Patient With Multiple Myeloma.","authors":"Alireza Zomorodian, Naim M Maalouf","doi":"10.1210/jcemcr/luae137","DOIUrl":"https://doi.org/10.1210/jcemcr/luae137","url":null,"abstract":"Multiple myeloma commonly manifests with symptoms arising from the involvement of various organs, particularly the bone and kidneys. In this report, we detail the case of a 44-year-old man who was diagnosed with multiple myeloma associated with reduced bone density. He exhibited clinical findings of osteomalacia due to Fanconi syndrome (characterized clinically by bone pain and proximal weakness and biochemically by elevated serum alkaline phosphatase, hypophosphatemia, hypouricemia, and glucosuria). With phosphate replacement, there was a notable improvement in bone pain, osteomalacia, and bone mineral density. Nevertheless, the patient continued to experience renal wasting of phosphate, uric acid, and glucose despite achieving remission from multiple myeloma for nearly 2 years. Our case highlights several important clinical features of myeloma-associated Fanconi syndrome, including the need to recognize this complication to appropriately treat the underlying bone disease while avoiding osteoclast inhibitors and the long-term persistence of the proximal renal tubulopathy despite achieving remission from myeloma and correction of osteomalacia.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae137"},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763042","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}

引用次数: 0

Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome. 一名患有贝克维特-维德曼综合征的儿童患者患上了 1 型糖尿病。

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae122

Lubaina Ehsan, Reem Anz, Hannah Asebes, Nikoli Nickson, Berrin Ergun-Longmire

{"title":"Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome.","authors":"Lubaina Ehsan, Reem Anz, Hannah Asebes, Nikoli Nickson, Berrin Ergun-Longmire","doi":"10.1210/jcemcr/luae122","DOIUrl":"10.1210/jcemcr/luae122","url":null,"abstract":"Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth syndrome with multiple clinical manifestations, including hypoglycemia. Various genetic alterations leading to BWS have been described. Literature has also described the association between BWS and congenital diabetes, but little is known about the association with type 1 diabetes (T1D). We report a 4-year-old female patient with co-occurring BWS and T1D. The patient presented with 2.4-kilogram weight loss in 3 months accompanied by headache, polyuria, and polydipsia. Initial workup showed blood glucose of 681 mg/dL (37.8 mmol/L). Additional workup revealed marked elevation of the glutamic acid decarboxylase 65 and insulin antibodies, confirming the diagnosis of T1D. The patient's initial genetic test results revealed BWS caused by hypomethylation of the imprinting center 2 (IC2) found on maternal chromosome 11. Concurrence of BWS and T1D is rare and there are cases previously described where BWS has co-occurred with congenital diabetes but not T1D. Although the etiology of acquired autoimmunity is unclear, the answer may lie in genetic analysis or autoimmunity secondary to preceding viral illness. Regardless of the etiology, this case emphasizes further exploration of the association between BWS and T1D.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae122"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725167","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}

引用次数: 0

Adrenocortical Tumor Associated With Pathogenic Variant in KCNJ5 and DNA Methylation of CYP11B2 in Primary Aldosteronism. 肾上腺皮质肿瘤与原发性醛固酮增多症中 KCNJ5 的致病性变异和 CYP11B2 的 DNA 甲基化有关

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae119

Ko Aiga, Mitsuhiro Kometani, Masashi Demura, Takashi Yoneda

{"title":"Adrenocortical Tumor Associated With Pathogenic Variant in KCNJ5 and DNA Methylation of CYP11B2 in Primary Aldosteronism.","authors":"Ko Aiga, Mitsuhiro Kometani, Masashi Demura, Takashi Yoneda","doi":"10.1210/jcemcr/luae119","DOIUrl":"10.1210/jcemcr/luae119","url":null,"abstract":"Primary aldosteronism (PA) is a subtype of secondary hypertension categorized as either unilateral PA (eg, aldosterone-producing adenoma [APA]) or bilateral PA. CYP11B2, an aldosterone synthase, is highly expressed in APA. Recent studies have revealed a high prevalence of pathogenic variants in KCNJ5 and the role of DNA methylation on CYP11B2 in APA. We present a case of unilateral PA with pathogenic variants in KCNJ5 and suppressed CYP11B2 expression. A 55-year-old woman with hypertension was referred to our hospital. A high aldosterone-renin ratio was observed; PA was confirmed using the captopril challenge test and the furosemide upright test. Although computed tomography showed no evident tumors in either adrenal gland, adrenal vein sampling revealed left gland dominance. Postoperatively, the aldosterone-renin ratio decreased and captopril challenge test showed negative findings. Pathogenic variants in the KCNJ5 were detected in the adenoma. Although immunohistochemistry for CYP11B2 was negative in adenoma, an aldosterone-producing cell cluster was confirmed in the adjacent left adrenal gland. Furthermore, DNA methylation analysis of the adenoma indicated hypermethylation in the CYP11B2 promoter region. The pathogenic variant in KCNJ5, specific to APA, induces CYP11B2 overexpression, resulting in excess aldosterone. However, these effects can be suppressed by DNA methylation.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae119"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725165","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}

引用次数: 0

Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene. 治疗胰岛素基因杂合子致病变异体 R46Q 患者糖尿病的新方法

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae134

Kristina Laugesen, Søren Gregersen, Julie Støy

{"title":"Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene.","authors":"Kristina Laugesen, Søren Gregersen, Julie Støy","doi":"10.1210/jcemcr/luae134","DOIUrl":"10.1210/jcemcr/luae134","url":null,"abstract":"Maturity-onset diabetes of the young (MODY) is a monogenic disorder of glucose homeostasis with several subtypes, each defined by a distinct genetic etiology. Heterozygous pathogenic variants in the insulin gene are rare causes of MODY, and optimal treatment strategies remain uncertain. Herein we describe a patient with diabetes caused by the heterozygous pathogenic variant R46Q in the insulin gene and the glycemic response to selected antidiabetic treatment regimens. The R46Q pathogenic variant leads to secretion of both mutant and wild-type insulin. In vitro, the mutant insulin is associated with a lower insulin-receptor affinity compared with wild-type insulin and a decline in wild-type insulin secretion. In our patient, treatment with a combination of long- and short-acting insulin led to a decline in hemoglobin A1C (HbA1c), although not to the recommended target. A shift to metformin and subsequent add-on of a sodium-glucose cotransporter 2 inhibitor (SGLT2i) resulted in HbA1c levels of less than 7% (53 mmol/mol) and durable glycemic control. Continuous glucose monitoring and oral glucose tolerance tests confirmed that treatment with metformin and SGLT2i was superior to treatment with insulin. In conclusion, diabetes caused by the pathogenic variant R46Q in the insulin gene may be effectively treated with noninsulin.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae134"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725166","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}

引用次数: 0

Weight Loss Improved Hypothalamic GH Deficiency but not Hypogonadotropic Hypogonadism in a Man With Down Syndrome. 减肥可改善唐氏综合征患者下丘脑 GH 缺乏症，但不能改善促性腺激素分泌过少症。

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae114

Yukie Nakagawa, Katsumi Taki

{"title":"Weight Loss Improved Hypothalamic GH Deficiency but not Hypogonadotropic Hypogonadism in a Man With Down Syndrome.","authors":"Yukie Nakagawa, Katsumi Taki","doi":"10.1210/jcemcr/luae114","DOIUrl":"10.1210/jcemcr/luae114","url":null,"abstract":"Down syndrome (DS) is associated with several endocrine disorders, including diabetes, obesity, and primary hypogonadism. Here, we present a man with DS who manifested with atypical hypogonadotropic hypogonadism and in whom weight loss resulted in the improvement of hypothalamic GH deficiency. A 27-year-old man with DS and severe obesity was admitted for hypoxia resulting from obesity hypoventilation syndrome. Laboratory tests showed normal levels of LH and FSH despite low testosterone and free testosterone levels. Moreover, thyroid stimulating hormone and prolactin levels were slightly elevated, although a euthyroid function was observed, and GH and IGF-1 levels were low. Endocrinological stimulation tests revealed hypogonadotropic hypogonadism and hypothalamic GH deficiency. Reduction in body weight by 35.3% resulted in the improvement of the IGF-1, thyroid stimulating hormone, and prolactin levels to the reference range, whereas the LH and FSH levels remained low, despite slight elevation. Levels of leptin, which suppresses the hypothalamus-gonadotroph-gonadal axis and upregulates thyrotropin-releasing hormone expression, decreased with weight loss. Furthermore, ghrelin, whose levels increase with weight loss, stimulates GH secretion. Thus, leptin and ghrelin could have contributed to the observed changes in the pituitary hormone profile after weight loss.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae114"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725168","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}

引用次数: 0

A Pediatric Case of Refractory Torsades de Pointes in Autoimmune Hypothyroidism. 一例自身免疫性甲状腺功能减退症难治性阵发性抽搐的儿科病例

JCEM case reports Pub Date : 2024-07-15 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae124

Sri Nikhita Chimatapu, Jessica L Schachter, Anjan S Batra, Rachel Sirignano, Erin R Okawa

{"title":"A Pediatric Case of Refractory Torsades de Pointes in Autoimmune Hypothyroidism.","authors":"Sri Nikhita Chimatapu, Jessica L Schachter, Anjan S Batra, Rachel Sirignano, Erin R Okawa","doi":"10.1210/jcemcr/luae124","DOIUrl":"10.1210/jcemcr/luae124","url":null,"abstract":"Hypothyroidism can have a significant impact on cardiac contractility, vascular resistance, blood pressure, and cardiac rhythm. Ventricular arrhythmias induced by hypothyroidism are infrequently reported, especially in pediatric cases. A 15-year-old girl with autoimmune hypothyroidism experienced pulseless ventricular arrhythmias on 2 separate occasions because of nonadherence to levothyroxine medication. Subsequent investigations revealed an SCN5A mutation associated with Brugada syndrome. A loop recorder captured polymorphic ventricular tachycardia (PMVT), specifically Torsades de Pointes during her second event. Both arrhythmias were addressed only after stabilizing her thyroid hormone levels with replacement therapy. Although rare, patients with uncontrolled hypothyroidism may present with ventricular arrhythmias, particularly PMVT. The cornerstone of treatment for hypothyroidism-induced ventricular arrhythmia is thyroid replacement therapy. The identification of an SCN5A mutation unmasked by overt hypothyroidism emphasizes the need for a comprehensive cardiac evaluation in patients with hypothyroidism being assessed for PMVT.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae124"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11247166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621859","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}

引用次数: 0

Refractory Hypercalcemia Secondary to Metastatic Parathyroid Carcinoma Treated With Immunotherapy. 用免疫疗法治疗转移性甲状旁腺癌继发的难治性高钙血症

JCEM case reports Pub Date : 2024-07-15 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae127

Brenda Ta, Michael James Bennett

引用次数: 0

Treatment of an Aggressive Gonadotroph Pituitary Neuroendocrine Tumor With ¹⁷⁷Lutetium DOTATATE Radionuclide Therapy. 用 177Lutetium DOTATATE 放射性核素疗法治疗侵袭性腺垂体神经内分泌肿瘤。

JCEM case reports Pub Date : 2024-07-15 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae123

Chaitanya Gandhi, Stella Koumna, Constance Chik

{"title":"Treatment of an Aggressive Gonadotroph Pituitary Neuroendocrine Tumor With 177Lutetium DOTATATE Radionuclide Therapy.","authors":"Chaitanya Gandhi, Stella Koumna, Constance Chik","doi":"10.1210/jcemcr/luae123","DOIUrl":"10.1210/jcemcr/luae123","url":null,"abstract":"Aggressive pituitary neuroendocrine tumors (PitNETs) present significant morbidity, and multimodal therapies including surgery, radiotherapy, and medications are frequently required. Chemotherapy, particularly temozolomide, is often pursued for tumors that progress despite these treatments. Although peptide receptor radionuclide therapy (PRRT) using radiolabeled somatostatin analogs is approved for the treatment of well-differentiated gastrointestinal neuroendocrine tumors, its use in aggressive PitNETs is limited. We describe the case of a 65-year-old man who presented with vision changes and hypopituitarism at age 33 secondary to a nonfunctioning gonadotroph PitNET. His initial treatment included a craniotomy followed by radiation therapy. With tumor regrowth, he required transsphenoidal surgeries at age 44 and age 52. At age 56, further tumor regrowth and a positive octreotide scan prompted treatment with long-acting octreotide for 1 year. Given absent tumor response, 12 cycles (4 treatment cycles and 8 maintenance cycles) of PRRT with 177Lutetium-DOTATATE were pursued. This resulted in partial response with significant tumor shrinkage. Notably, there was no tumor regrowth 40 months after treatment discontinuation. This is only the second report on the effectiveness of PRRT in patients with aggressive gonadotroph PitNETs. We also provide an overview of PRRT for PitNETs and describe clinical outcomes previously reported in the literature.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae123"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11247163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621861","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}

引用次数: 0

Use of Cinacalcet for the Management of Primary Hyperparathyroidism in Pregnancy. 使用西那卡西酮治疗妊娠期原发性甲状旁腺功能亢进症。

JCEM case reports Pub Date : 2024-07-15 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae117

Elissa Foster, Naim M Maalouf

引用次数: 0