Endocrinology, diabetes & metabolism case reports最新文献_第3页

GH replacement causing acute hyperglycaemia and ketonuria in a type 1 diabetic patient. 生长激素替代引起1型糖尿病患者急性高血糖和酮症尿。

IF 0.9

Endocrinology, diabetes & metabolism case reports Pub Date : 2013-01-01 Epub Date: 2013-09-23 DOI: 10.1530/EDM-13-0047

Dominic Cavlan, Shanti Vijayaraghavan, Susan Gelding, William Drake

{"title":"GH replacement causing acute hyperglycaemia and ketonuria in a type 1 diabetic patient.","authors":"Dominic Cavlan, Shanti Vijayaraghavan, Susan Gelding, William Drake","doi":"10.1530/EDM-13-0047","DOIUrl":"https://doi.org/10.1530/EDM-13-0047","url":null,"abstract":"Unlabelled: A state of insulin resistance is common to the clinical conditions of both chronic growth hormone (GH) deficiency and GH excess (acromegaly). GH has a physiological role in glucose metabolism in the acute settings of fast and exercise and is the only anabolic hormone secreted in the fasting state. We report the case of a patient in whom knowledge of this aspect of GH physiology was vital to her care. A woman with well-controlled type 1 diabetes mellitus who developed hypopituitarism following the birth of her first child required GH replacement therapy. Hours after the first dose, she developed a rapid metabolic deterioration and awoke with hyperglycaemia and ketonuria. She adjusted her insulin dose accordingly, but the pattern was repeated with each subsequent increase in her dose. Acute GH-induced lipolysis results in an abundance of free fatty acids (FFA); these directly inhibit glucose uptake into muscle, and this can lead to hyperglycaemia. This glucose-fatty acid cycle was first described by Randle et al. in 1963; it is a nutrient-mediated fine control that allows oxidative muscle to switch between glucose and fatty acids as fuel, depending on their availability. We describe the mechanism in detail.Learning points: THERE IS A COMPLEX INTERPLAY BETWEEN GH AND INSULIN RESISTANCE: chronically, both GH excess and deficiency lead to insulin resistance, but there is also an acute mechanism that is less well appreciated by clinicians.GH activates hormone-sensitive lipase to release FFA into the circulation; these may inhibit the uptake of glucose leading to hyperglycaemia and ketosis in the type 1 diabetic patient.The Randle cycle, or glucose-fatty acid cycle, outlines the mechanism for this acute relationship.Monitoring the adequacy of GH replacement in patients with type 1 diabetes is difficult, with IGF1 an unreliable marker.","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130047"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40298894","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

Late presentation of hyperandrogenism in pregnancy: clinical features and differential diagnosis. 晚期妊娠高雄激素症的临床特征和鉴别诊断。

IF 0.9

Endocrinology, diabetes & metabolism case reports Pub Date : 2013-01-01 Epub Date: 2013-10-16 DOI: 10.1530/EDM-13-0048

Gautam Das, Vinay S Eligar, Jyothish Govindan, D Aled Rees

{"title":"Late presentation of hyperandrogenism in pregnancy: clinical features and differential diagnosis.","authors":"Gautam Das, Vinay S Eligar, Jyothish Govindan, D Aled Rees","doi":"10.1530/EDM-13-0048","DOIUrl":"https://doi.org/10.1530/EDM-13-0048","url":null,"abstract":"Background: Hyperandrogenic states in pregnancy are rare but arise most commonly due to new-onset ovarian pathology in pregnancy. We describe the case of a young woman who presented in the latter half of her pregnancy with features of hyperandrogenism. We review the biochemical and imaging findings and discuss the differential diagnosis.Case presentation: A 26-year-old woman presented in the later part of her pregnancy with widespread hirsutism. Biochemical testing confirmed hyperandrogenism (testosterone, 13.7 nmol/l and second-trimester pregnancy range, 0.9-4.9 nmol/l), although she had no history of menstrual disturbance, hirsutism or acne prior to conception. Radiological evaluation (ultrasound and magnetic resonance imaging) revealed multiple cystic lesions in both ovaries, leading to a presumptive diagnosis of hyperreactio luteinalis (HL). The implications of maternal hyperandrogenism on foetal virilisation were considered and the patient was counselled appropriately. She delivered a healthy baby boy uneventfully. Androgen levels, hirsutism and acne normalised within a few weeks of delivery.Conclusion: HL can occur at any stage of pregnancy and is an important differential diagnosis in pregnant patients with features of androgen excess. Most cases regress spontaneously after delivery and major interventions are usually not needed.Learning points: Hyperandrogenism in pregnancy is rare.Clinical features are similar to the non-pregnant state in the mother but virilisation in the foetus can have profound consequences.HL and pregnancy luteoma are the most common ovarian pathologies leading to hyperandrogenism in pregnancy.Spontaneous regression occurs in the post-partum period in the vast majority of cases and surgery is only required for local complications.","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130048"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1530/EDM-13-0048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40298895","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: 8

Utility of genetic testing in suspected familial cranial diabetes insipidus. 基因检测在疑似家族性颅内尿崩症中的应用。

IF 0.9

Endocrinology, diabetes & metabolism case reports Pub Date : 2013-01-01 Epub Date: 2013-10-21 DOI: 10.1530/EDM-13-0068

Ramesh Srinivasan, Stephen Ball, Martin Ward-Platt, David Bourn, Ciaron McAnulty, Tim Cheetham

{"title":"Utility of genetic testing in suspected familial cranial diabetes insipidus.","authors":"Ramesh Srinivasan, Stephen Ball, Martin Ward-Platt, David Bourn, Ciaron McAnulty, Tim Cheetham","doi":"10.1530/EDM-13-0068","DOIUrl":"https://doi.org/10.1530/EDM-13-0068","url":null,"abstract":"Aim: Differentiating familial cranial diabetes insipidus (CDI) from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis.Patient and methods: The index case presented at 3 months with polydipsia. He was diagnosed with familial CDI based on a positive family history combined with what was considered to be suspicious symptomatology and biochemistry. He was treated with desmopressin (DDAVP) but re-presented at 5 months of age with hyponatraemia and the DDAVP was stopped. Gene sequencing of the vasopressin gene in father and his offspring was undertaken to establish the underlying molecular defect.Results: Both father and daughter were found to have the pathogenic mutation c.242T>C (p.Leu81Pro) in exon 2 of the AVP gene consistent with a diagnosis of familial diabetes insipidus. The index case did not have the pathogenic mutation and the family could be reassured that he would not require intervention with DDAVP.Conclusions: Gene sequencing of AVP gene can have a valuable role in predicting whether or not a child is at risk of developing CDI in future. This can help to prevent family uncertainty and unnecessary treatment with its associated risks.Learning points: Differentiating patients with familial cranial diabetes insipidus from those with primary polydipsia is not always straightforward.Molecular genetic analysis of the vasopressin gene is a valuable way of confirming or refuting a diagnosis of familial CDI in difficult cases and is a valuable way of identifying individuals who will develop CDI in later childhood. This information can be of great value to families.","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130068"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40299811","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: 4

Too little or too much corticosteroid? Coexisting adrenal insufficiency and Cushing's syndrome from chronic, intermittent use of intranasal betamethasone. 皮质类固醇过少还是过多?慢性、间歇使用鼻内倍他米松并发肾上腺功能不全和库欣综合征。

IF 0.9

Endocrinology, diabetes & metabolism case reports Pub Date : 2013-01-01 Epub Date: 2013-10-04 DOI: 10.1530/EDM-13-0036

Adrienne Dow, Run Yu, John Carmichael

{"title":"Too little or too much corticosteroid? Coexisting adrenal insufficiency and Cushing's syndrome from chronic, intermittent use of intranasal betamethasone.","authors":"Adrienne Dow, Run Yu, John Carmichael","doi":"10.1530/EDM-13-0036","DOIUrl":"https://doi.org/10.1530/EDM-13-0036","url":null,"abstract":"Unlabelled: To report the puzzling, rare occurrence of coexisting adrenal insufficiency and Cushing's syndrome from chronic, intermittent use of intranasal betamethasone spray. A 62-year-old male was referred to our endocrinology clinic for management of adrenal insufficiency. This previously healthy individual began to experience chronic sinus symptoms in 2007, was treated with multiple ensuing sinus surgeries, and received oral glucocorticoid for 6 months. In the following 5 years, he suffered severe fatigue and was diagnosed with secondary adrenal insufficiency. He could not be weaned from corticosteroid and developed clear cushingoid features. In our clinic, careful inquiry on medications revealed chronic, intermittent use of high-dose intranasal betamethasone since 2008, which was not apparent to his other treating physicians. His cushingoid features significantly improved after holding intranasal betamethasone.Learning points: Chronic, intermittent intranasal betamethasone can cause secondary adrenal insufficiency and iatrogenic Cushing's syndrome when used in excess.Topical corticosteroid use should be considered in the differential diagnosis of adrenal insufficiency or Cushing's syndrome.","PeriodicalId":520608,"journal":{"name":"Endocrinology, diabetes & metabolism case reports","volume":" ","pages":"130036"},"PeriodicalIF":0.9,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40300440","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: 5